| geneid | 4363 |
|---|---|
| ensemblid | ENSG00000103222.20 |
| hgncid | 51 |
| symbol | ABCC1 |
| name | ATP binding cassette subfamily C member 1 |
| refseq_nuc | NM_004996.4 |
| refseq_prot | NP_004987.2 |
| ensembl_nuc | ENST00000399410.8 |
| ensembl_prot | ENSP00000382342.3 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 15949616 |
| end | 16143053 |
| strand | + |
| ver | v1.2 |
| region | chr16:15949616-16143053 |
| region5000 | chr16:15944616-16148053 |
| regionname0 | ABCC1_chr16_15949616_16143053 |
| regionname5000 | ABCC1_chr16_15944616_16148053 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:16044465
|
T | C | 0.5422 | synonymous_variant | LOW | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(132): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040others(132): Show | 135 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 8/31 | c.825T>C | p.Val275Val | 961/6504 | 825/4596 | 275/1531 | ||
|
chr16:16045857
|
T | C | 0.5462 | synonymous_variant | LOW | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(133): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(53): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040others(133): Show | 136 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 9/31 | c.1062T>C | p.Asn354Asn | 1198/6504 | 1062/4596 | 354/1531 | ||
|
chr16:16068162
|
T | C | 0.7952 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(195): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(33): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(70): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040others(195): Show | 198 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 13/31 | c.1684T>C | p.Leu562Leu | 1820/6504 | 1684/4596 | 562/1531 | ||
|
chr16:16134385
|
G | A | 0.1526 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(35): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0013others(8): Show | a0001c0004t0002a0001c0004t0006a0001c0004t0013others(11): Show | a0001c0004t0002g0005a0001c0004t0002g0060a0001c0004t0002g0136others(35): Show | 38 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 28/31 | c.4002G>A | p.Ser1334Ser | 4138/6504 | 4002/4596 | 1334/1531 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:16142147
|
T | A | 0.2289 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0007a0001c0002t0002a0001c0002t0007others(20): Show | a0001c0001t0007g0079a0001c0001t0007g0245a0001c0002t0002g0112others(54): Show | 57 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 31/31 | c.*866T>A | 866 | |||||
|
chr16:16142602
|
A | AT | 0.7711 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(189): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(66): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040others(189): Show | 192 | 249 | 1 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 31/31 | c.*1333dupT | 1334 | INFO_REALIGN_3_PRIME | ||||
|
chr16:16142666
|
T | G | 0.9277 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(228): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(84): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040others(228): Show | 231 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 31/31 | c.*1385T>G | 1385 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC1 | 0/1 | a0001 | 1531 | 228 | 77 | 33 | 74 | 12 | 31 | subcellular location copy fasta | chr16 | 15944616 | 16148053 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC1 | 0/0 | c0006 | 4596 | 6 | 0 | 2 | 3 | 1 | 0 | copy fasta | chr16 | 15944616 | 16148053 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC1 | 0/0 | t0002 | 1910 | 38 | 5 | 12 | 11 | 7 | 3 | copy fasta | chr16 | 15944616 | 16148053 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC1 | 0/0 | a0001c0006 | 6 | 0 | 2 | 3 | 1 | 0 | 4596 | copy fasta | chr16 | 15944616 | 16148053 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC1 | 0/0 | a0001c0006t0002 | 6 | 0 | 2 | 3 | 1 | 0 | 6505 | copy fasta | chr16 | 15944616 | 16148053 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 15949799 | + | 1 | -0.9809 | -0.9776 | -0.9734 | 0.0075 | acceptor | a0001c0006t0002 | NA20752.hp2 | HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16007816 | + | 2 | 0.9978 | 0.9978 | 0.9976 | 0.0002 | donor | a0001c0006t0002 | NA20752.hp2 | HG02129.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16007992 | + | 2 | -0.9926 | -0.9925 | -0.9918 | 0.0008 | acceptor | a0001c0006t0002 | NA20752.hp2 | HG02129.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16009776 | + | 3 | 0.9924 | 0.9923 | 0.9914 | 0.0010 | donor | a0001c0006t0002 | HG02129.hp1 | NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16009901 | + | 3 | -0.9976 | -0.9974 | -0.9972 | 0.0004 | acceptor | a0001c0006t0002 | HG02129.hp1 | HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16014491 | + | 4 | 0.9810 | 0.9783 | 0.9778 | 0.0032 | donor | a0001c0006t0002 | NA20752.hp2 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16014628 | + | 4 | -0.9948 | -0.9931 | -0.9929 | 0.0019 | acceptor | a0001c0006t0002 | HG01243.hp2 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16016496 | + | 5 | 0.7702 | 0.7638 | 0.7194 | 0.0507 | donor | a0001c0006t0002 | HG00639.hp2 | NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16016621 | + | 5 | -0.9354 | -0.9312 | -0.9003 | 0.0351 | acceptor | a0001c0006t0002 | HG02129.hp1 NA18943.hp1 |
NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16033109 | + | 6 | 0.9281 | 0.9220 | 0.9139 | 0.0142 | donor | a0001c0006t0002 | HG01243.hp2 | NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16033170 | + | 6 | -0.9525 | -0.9476 | -0.9446 | 0.0079 | acceptor | a0001c0006t0002 | HG01243.hp2 | HG00639.hp2 HG02129.hp1 NA18965.hp1 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16036472 | + | 7 | 0.9901 | 0.9897 | 0.9893 | 0.0008 | donor | a0001c0006t0002 | HG00639.hp2 | HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16036603 | + | 7 | -0.9957 | -0.9953 | -0.9951 | 0.0006 | acceptor | a0001c0006t0002 | NA20752.hp2 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16044450 | + | 8 | 0.9947 | 0.9946 | 0.9945 | 0.0002 | donor | a0001c0006t0002 | HG00639.hp2 NA20752.hp2 |
HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16044680 | + | 8 | -0.9978 | -0.9978 | -0.9976 | 0.0002 | acceptor | a0001c0006t0002 | HG02129.hp1 NA18943.hp1 NA18965.hp1 |
HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16045836 | + | 9 | 0.9996 | 0.9995 | 0.9995 | 0.0001 | donor | a0001c0006t0002 | HG01243.hp2 | HG00639.hp2 NA20752.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16046013 | + | 9 | -0.9994 | -0.9993 | -0.9993 | 0.0001 | acceptor | a0001c0006t0002 | HG00639.hp2 NA20752.hp2 |
HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16048142 | + | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0006t0002 | NA20752.hp2 | HG02129.hp1 NA18943.hp1 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16048303 | + | 10 | -0.9664 | -0.9622 | -0.9605 | 0.0059 | acceptor | a0001c0006t0002 | NA20752.hp2 | HG02129.hp1 NA18943.hp1 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16052724 | + | 11 | 0.9974 | 0.9971 | 0.9965 | 0.0009 | donor | a0001c0006t0002 | NA18965.hp1 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16052816 | + | 11 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0006t0002 | HG00639.hp2 HG02129.hp1 |
NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16056092 | + | 12 | 0.9986 | 0.9981 | 0.9978 | 0.0007 | donor | a0001c0006t0002 | HG00639.hp2 | HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16056295 | + | 12 | -0.9990 | -0.9986 | -0.9983 | 0.0007 | acceptor | a0001c0006t0002 | HG00639.hp2 | NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16068156 | + | 13 | 0.9919 | 0.9916 | 0.9913 | 0.0006 | donor | a0001c0006t0002 | HG00639.hp2 | NA18943.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16068302 | + | 13 | -0.9982 | -0.9981 | -0.9981 | 0.0001 | acceptor | a0001c0006t0002 | HG01243.hp2 NA18943.hp1 |
HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16071642 | + | 14 | 0.9958 | 0.9958 | 0.9955 | 0.0003 | donor | a0001c0006t0002 | NA18965.hp1 | HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16071729 | + | 14 | -0.9865 | -0.9854 | -0.9847 | 0.0019 | acceptor | a0001c0006t0002 | HG00639.hp2 | NA18943.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16076326 | + | 15 | 0.9843 | 0.9838 | 0.9743 | 0.0100 | donor | a0001c0006t0002 | HG02129.hp1 | HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16076401 | + | 15 | -0.9797 | -0.9794 | -0.9657 | 0.0140 | acceptor | a0001c0006t0002 | NA18943.hp1 NA20752.hp2 |
HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16079352 | + | 16 | 0.9386 | 0.9350 | 0.9260 | 0.0126 | donor | a0001c0006t0002 | HG00639.hp2 HG01243.hp2 |
NA18965.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16079478 | + | 16 | -0.9811 | -0.9809 | -0.9781 | 0.0030 | acceptor | a0001c0006t0002 | HG00639.hp2 HG01243.hp2 |
NA18965.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16083366 | + | 17 | 0.9951 | 0.9951 | 0.9950 | 0.0001 | donor | a0001c0006t0002 | HG02129.hp1 NA18943.hp1 NA20752.hp2 |
HG00639.hp2 HG01243.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16083542 | + | 17 | -0.9574 | -0.9529 | -0.9529 | 0.0046 | acceptor | a0001c0006t0002 | HG00639.hp2 HG01243.hp2 |
HG02129.hp1 NA18943.hp1 NA20752.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16086824 | + | 18 | 0.9965 | 0.9965 | 0.9960 | 0.0005 | donor | a0001c0006t0002 | HG02129.hp1 NA18943.hp1 NA18965.hp1 NA20752.hp2 |
HG00639.hp2 HG01243.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16086991 | + | 18 | -0.9960 | -0.9960 | -0.9959 | 0.0000 | acceptor | a0001c0006t0002 | HG02129.hp1 NA18943.hp1 NA18965.hp1 NA20752.hp2 |
HG00639.hp2 HG01243.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16090405 | + | 19 | 0.9948 | 0.9939 | 0.9939 | 0.0009 | donor | a0001c0006t0002 | HG01243.hp2 | HG02129.hp1 NA18943.hp1 NA18965.hp1 NA20752.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16090588 | + | 19 | -0.9941 | -0.9941 | -0.9936 | 0.0005 | acceptor | a0001c0006t0002 | HG02129.hp1 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16102627 | + | 20 | 0.9821 | 0.9819 | 0.9797 | 0.0024 | donor | a0001c0006t0002 | NA18965.hp1 | HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16102717 | + | 20 | -0.9874 | -0.9867 | -0.9858 | 0.0016 | acceptor | a0001c0006t0002 | NA18965.hp1 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16106738 | + | 21 | 0.9811 | 0.9798 | 0.9793 | 0.0019 | donor | a0001c0006t0002 | HG01243.hp2 | NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16106873 | + | 21 | -0.9916 | -0.9915 | -0.9914 | 0.0002 | acceptor | a0001c0006t0002 | NA18965.hp1 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16111375 | + | 22 | 0.9985 | 0.9984 | 0.9982 | 0.0004 | donor | a0001c0006t0002 | NA18943.hp1 | HG02129.hp1 NA18965.hp1 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16111582 | + | 22 | -0.9992 | -0.9991 | -0.9991 | 0.0001 | acceptor | a0001c0006t0002 | HG02129.hp1 NA18965.hp1 |
HG01243.hp2 NA20752.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16114766 | + | 23 | 0.9877 | 0.9874 | 0.9873 | 0.0004 | donor | a0001c0006t0002 | NA18965.hp1 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16115076 | + | 23 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0001c0006t0002 | HG00639.hp2 NA18943.hp1 |
NA18965.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16121975 | + | 24 | 0.9925 | 0.9923 | 0.9922 | 0.0002 | donor | a0001c0006t0002 | HG02129.hp1 | NA18965.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16122174 | + | 24 | -0.9959 | -0.9958 | -0.9955 | 0.0004 | acceptor | a0001c0006t0002 | HG01243.hp2 NA18943.hp1 NA20752.hp2 |
HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16124789 | + | 25 | 0.9914 | 0.9909 | 0.9864 | 0.0050 | donor | a0001c0006t0002 | HG00639.hp2 | NA18965.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16124915 | + | 25 | -0.9818 | -0.9813 | -0.9810 | 0.0008 | acceptor | a0001c0006t0002 | HG02129.hp1 | HG00639.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16125810 | + | 26 | 0.9974 | 0.9973 | 0.9972 | 0.0002 | donor | a0001c0006t0002 | NA20752.hp2 | NA18965.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16125911 | + | 26 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0006t0002 | NA20752.hp2 | HG00639.hp2 HG01243.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16131789 | + | 27 | 0.9898 | 0.9898 | 0.9891 | 0.0007 | donor | a0001c0006t0002 | HG02129.hp1 NA18965.hp1 |
NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16131935 | + | 27 | -0.9984 | -0.9983 | -0.9981 | 0.0003 | acceptor | a0001c0006t0002 | HG00639.hp2 HG01243.hp2 NA18943.hp1 |
NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16134350 | + | 28 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0006t0002 | NA18965.hp1 | HG00639.hp2 HG01243.hp2 HG02129.hp1 NA18943.hp1 NA20752.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16134508 | + | 28 | -0.9963 | -0.9962 | -0.9961 | 0.0002 | acceptor | a0001c0006t0002 | NA18965.hp1 | NA20752.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16136478 | + | 29 | 0.9956 | 0.9954 | 0.9955 | 0.0001 | donor | a0001c0006t0002 | NA18943.hp1 | HG00639.hp2 HG01243.hp2 NA18965.hp1 NA20752.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16136644 | + | 29 | -0.9982 | -0.9981 | -0.9981 | 0.0001 | acceptor | a0001c0006t0002 | NA18943.hp1 | HG00639.hp2 HG01243.hp2 NA18965.hp1 NA20752.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16138364 | + | 30 | 0.9939 | 0.9939 | 0.9936 | 0.0002 | donor | a0001c0006t0002 | HG00639.hp2 NA18965.hp1 NA20752.hp2 |
NA18943.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16138558 | + | 30 | -0.9980 | -0.9979 | -0.9979 | 0.0001 | acceptor | a0001c0006t0002 | HG02129.hp1 | HG00639.hp2 NA18965.hp1 NA20752.hp2 |
ABCC1 | chr16 | 15944616 | 16148053 |
| 16141173 | + | 31 | 0.9898 | 0.9897 | 0.9891 | 0.0007 | donor | a0001c0006t0002 | HG02129.hp1 | HG01243.hp2 | ABCC1 | chr16 | 15944616 | 16148053 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16083830:splice 16083830:variant goto | c.2292+288G>A | 126860 | Uncertain_significance | ABCC1:4363 | SO:0001627 intron_variant |
MONDO:MONDO:0016419 MedGen:C0346153 OMIM:114480 Orphanet:227535 |
+ | 11 | 39 | 76 | 195 | a0001a0002a0003a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(34): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(71): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(190): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 others(190): Show |
MODIFIER | chr16 | G | A | TogoVar |
| 16076758:splice 16076758:variant goto | c.1988+357G>T | 126856 | Uncertain_significance | ABCC1:4363 | SO:0001627 intron_variant |
MONDO:MONDO:0016419 MedGen:C0346153 OMIM:114480 Orphanet:227535 |
+ | 8 | 31 | 62 | 125 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(57): Show | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0083others(120): Show | HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(120): Show |
MODIFIER | chr16 | G | T | TogoVar |
| 16076711:splice 16076711:variant goto | c.1988+310C>T | 126855 | Uncertain_significance | ABCC1:4363 | SO:0001627 intron_variant |
MONDO:MONDO:0016419 MedGen:C0346153 OMIM:114480 Orphanet:227535 |
+ | 3 | 10 | 17 | 30 | a0001a0003a0008 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0069a0001c0001t0001g0179a0001c0001t0004g0166a0001c0001t0004g0240others(25): Show | HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01243.hp2 HG01261.hp1 others(25): Show |
MODIFIER | chr16 | C | T | TogoVar |
| 16077291:splice 16077291:variant goto | c.1988+890G>T | 126858 | association | ABCC1:4363 | SO:0001627 intron_variant |
MONDO:MONDO:0016419 MedGen:C0346153 OMIM:114480 Orphanet:227535 |
+ | 3 | 10 | 17 | 30 | a0001a0003a0008 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0069a0001c0001t0001g0179a0001c0001t0004g0166a0001c0001t0004g0240others(25): Show | HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01243.hp2 HG01261.hp1 others(25): Show |
MODIFIER | chr16 | G | T | TogoVar |
| 16075709:splice 16075709:variant goto | c.1913-617C>T | 126852 | Uncertain_significance | ABCC1:4363 | SO:0001627 intron_variant |
MONDO:MONDO:0016419 MedGen:C0346153 OMIM:114480 Orphanet:227535 |
+ | 4 | 23 | 54 | 135 | a0001a0004a0005a0009 | a0001c0001a0001c0002a0001c0004a0001c0006a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(49): Show | a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0070a0001c0001t0001g0083others(130): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 others(130): Show |
MODIFIER | chr16 | C | T | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:16034059
|
c.677+889G>T |
Estimated glomerular filtration rate0.00 others(1): Show |
a0001a0002a0003a0004a0010others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(55): Show | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083others(143): Show | HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 others(143): Show |
A catalog of genetic loci associated with kidney f others(47): Show |
567,460 European ancestry individuals, 165,726 Eas others(211): Show |
ABCC1 | ABCC1 | rs193538-T | + | MODIFIER | chr16 | G | T |
|
chr16:16029191
|
c.616-3918C>A | Basophil count0.017944 | a0001a0003a0004a0007a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0003g0061a0001c0001t0004g0106a0001c0001t0004g0118others(110): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(110): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
474,001 European ancestry individuals/ | NR | ABCC1 | rs875740-A | + | MODIFIER | chr16 | C | A |
|
chr16:16029191
|
c.616-3918C>A | Basophil count | a0001a0003a0004a0007a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0003g0061a0001c0001t0004g0106a0001c0001t0004g0118others(110): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(110): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
577,663 African American or Afro-Caribbean, Africa others(116): Show |
NR | ABCC1 | rs875740-A | + | MODIFIER | chr16 | C | A |
|
chr16:16040137
|
c.809+3534T>C | Mean corpuscular hemoglobin | a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(38): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(96): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 443,000 European ancestry individual others(2): Show |
ABCC1 | rs165975-? | + | MODIFIER | chr16 | T | C | |
|
chr16:15954796
|
c.48+4997G>C | Severe autoimmune type 2 diabetes1.793 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0010a0001c0001t0011others(11): Show | a0001c0001t0001g0040a0001c0001t0003g0061a0001c0001t0004g0118a0001c0001t0010g0042a0001c0001t0010g0043others(14): Show | HG00280.hp2 HG00323.hp2 HG01071.hp1 HG01168.hp1 HG01175.hp2 others(14): Show |
Genome-wide association analyses highlight etiolog others(63): Show |
452 Scandinavian ancestry cases, 2,744 Scandinavia others(20): Show |
ABCC1 | ABCC1 | rs71378214-C | + | MODIFIER | chr16 | G | C |
|
chr16:15953968
|
c.48+4169T>C | Glycated hemoglobin levels0.0225 | a0001a0005 | a0001c0001a0001c0002a0001c0003a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0010others(16): Show | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0086a0001c0001t0003g0061a0001c0001t0004g0118others(21): Show | HG00280.hp2 HG00323.hp2 HG01168.hp1 HG01243.hp2 HG02451.hp1 others(21): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
327,177 European ancestry individuals, 4,847 Afric others(64): Show |
NR | ABCC1 | rs2384937-C | + | MODIFIER | chr16 | T | C |
|
chr16:16067142
|
c.1678-1014C>T | Thalamus volume change rate x age interaction (2df)others(11): Show | a0001a0002a0004a0010a0011 | a0001c0001a0001c0002a0001c0004a0001c0006a0001c0028others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(18): Show | a0001c0001t0001g0125a0001c0001t0001g0134a0001c0001t0001g0222a0001c0001t0003g0011a0001c0001t0003g0071others(34): Show | HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 others(34): Show |
Genetic variants associated with longitudinal chan others(43): Show |
15,100 European ancestry individuals/ | ABCC1 | rs45440695-T | + | MODIFIER | chr16 | C | T | |
|
chr16:15971544
|
c.48+21745A>G | Venous thromboembolism adjusted for sickle cell variant rs77121243-Tothers(33): Show | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(61): Show | a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0083a0001c0001t0001g0086a0001c0001t0001g0138others(139): Show | HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 others(139): Show |
Identification of unique venous thromboembolism-su others(43): Show |
393 African American cases, 4,941 African American others(13): Show |
ABCC1 | ABCC1 | rs215088-A | + | MODIFIER | chr16 | A | G |
|
chr16:16029602
|
c.616-3507A>T |
White blood cell count (basophil)0.02315 others(3): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
171,846 European ancestry individuals/ | ABCC1 | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T |
|
chr16:16029602
|
c.616-3507A>T |
3-hydroxyoctanoylcarnitine (1) levels0.0 others(5): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,245 European ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16029602
|
c.616-3507A>T |
3-hydroxyoctanoylcarnitine (2) levels0.0 others(6): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,243 European ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16055069
|
c.1474-1023G>A | Gamma-glutamylcitrulline levels0.115555 | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0002a0001c0005a0001c0006a0001c0007others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(52): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(119): Show | HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(119): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,163 European ancestry individuals/ | ABCC1 | rs35594-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16033378
|
c.677+208G>A | X-13684 levels0.124162 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,112 European ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16032907
|
c.616-202T>C | Gamma-glutamylglutamine levels0.116171 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,217 European ancestry individuals/ | ABCC1 | rs924138-C | + | MODIFIER | chr16 | T | C | |
|
chr16:16033378
|
c.677+208G>A | Cysteinylglycine levels0.128506 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,214 European ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16029602
|
c.616-3507A>T | Cys-gly, oxidized levels0.204434 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,256 European ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16001302
|
c.49-6514C>T | Coagulation Factor X levels0.115 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0010others(42): Show | a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216others(96): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 others(96): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABCC1 | rs4780584-T | + | MODIFIER | chr16 | C | T | |
|
chr16:16145682
|
c.*4401G>A | CD166 antigen levels0.114 | a0001a0002 | a0001c0002a0001c0004a0001c0006a0001c0013a0001c0015others(6): Show | a0001c0002t0002a0001c0004t0002a0001c0004t0013a0001c0004t0028a0001c0006t0002others(8): Show | a0001c0002t0002g0112a0001c0002t0002g0150a0001c0004t0002g0005a0001c0004t0002g0060a0001c0004t0002g0136others(33): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00609.hp1 others(33): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABCC1 - ABCC6 | rs12448760-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16033378
|
c.677+208G>A |
Hexanoylcarnitine-to-octanoylcarnitine ratio< others(9): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
An atlas of genetic influences on human blood meta others(8): Show |
5,568 European ancestry individuals/1,763 European others(21): Show |
ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16029602
|
c.616-3507A>T | Succinylcarnitine levels0.017 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
An atlas of genetic influences on human blood meta others(8): Show |
6,948 European ancestry individuals/ | ABCC1 | rs924135-A | + | MODIFIER | chr16 | A | T | |
|
chr16:16033378
|
c.677+208G>A | X-13435 levels0.02 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
An atlas of genetic influences on human blood meta others(8): Show |
6,970 European ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16034885
|
c.678-1587C>G | Glutaroyl carnitine levels0.02 | a0001a0002a0003a0004a0010others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(56): Show | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083others(151): Show | HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 others(151): Show |
An atlas of genetic influences on human blood meta others(8): Show |
7,701 European ancestry individuals/ | ABCC1 | rs246234-C | + | MODIFIER | chr16 | C | G | |
|
chr16:16033378
|
c.677+208G>A | Octanoylcarnitine (c8) levels0.111613 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,226 European ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16033378
|
c.677+208G>A | Decanoylcarnitine (C10) levels0.0979324 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,225 European ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16033378
|
c.677+208G>A | Glutarylcarnitine (c5-dc) levels0.116396 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,238 European ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16033378
|
c.677+208G>A |
Cis-4-decenoylcarnitine (C10:1) levels0. others(6): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,239 European ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16029602
|
c.616-3507A>T |
Cysteinylglycine disulfide levels0.16589 others(1): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,216 European ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16033378
|
c.677+208G>A | Succinylcarnitine (C4DC) levels0.120633 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,212 European ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16034059
|
c.677+889G>T | Estimated glomerular filtration rate (creatinine)others(14): Show | a0001a0002a0003a0004a0010others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(55): Show | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083others(143): Show | HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 others(143): Show |
Epigenomic and transcriptomic analyses define core others(64): Show |
1,205,871 European ancestry individuals, 168,300 E others(384): Show |
ABCC1 | rs193538-T | + | MODIFIER | chr16 | G | T | |
|
chr16:16029602
|
c.616-3507A>T | Acylcarnitine (12:0) levels0.133 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16002276
|
c.49-5540G>C | Pimelylcarnitine levels7.778 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0010others(42): Show | a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216others(97): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(97): Show |
A cross-platform approach identifies genetic regul others(37): Show |
15,119 Caucasian ancestry individuals/ | ABCC1 | rs12921623-C | + | MODIFIER | chr16 | G | C | |
|
chr16:16029602
|
c.616-3507A>T | Acylcarnitine (12:0) levels | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
6,057 European ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16033378
|
c.677+208G>A | Octanoylcarnitine levels10.227 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
A cross-platform approach identifies genetic regul others(37): Show |
31,969 Caucasian ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16029602
|
c.616-3507A>T | Decanoylcarnitine levels10.788 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
A cross-platform approach identifies genetic regul others(37): Show |
31,934 Caucasian ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16004511
|
c.49-3305T>C | Decenoylcarnitine levels6.922 | a0001a0003a0004a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(54): Show | a0001c0001t0001g0070a0001c0001t0001g0084a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214others(123): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 others(123): Show |
A cross-platform approach identifies genetic regul others(37): Show |
15,116 Caucasian ancestry individuals/ | ABCC1 | rs11075289-C | + | MODIFIER | chr16 | T | C | |
|
chr16:16029602
|
c.616-3507A>T | Dodecanoylcarnitine levels10.274 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
A cross-platform approach identifies genetic regul others(37): Show |
28,569 Caucasian ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16002276
|
c.49-5540G>C | Dodecenoylcarnitine levels8.131 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0010others(42): Show | a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216others(97): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(97): Show |
A cross-platform approach identifies genetic regul others(37): Show |
16,839 Caucasian ancestry individuals/ | ABCC1 | rs12921623-C | + | MODIFIER | chr16 | G | C | |
|
chr16:16029602
|
c.616-3507A>T | Tetradecadienylcarnitine levels6.564 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
A cross-platform approach identifies genetic regul others(37): Show |
15,118 Caucasian ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16002276
|
c.49-5540G>C | Tetradecenoylcarnitine levels8.88 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0010others(42): Show | a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216others(97): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(97): Show |
A cross-platform approach identifies genetic regul others(37): Show |
31,105 Caucasian ancestry individuals/ | ABCC1 | rs12921623-C | + | MODIFIER | chr16 | G | C | |
|
chr16:16002421
|
c.49-5395G>T | Plasma 3-hydroxydecanoylcarnitine levels in chronic kidney diseaseothers(31): Show | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0010others(42): Show | a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216others(97): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(97): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,959 European ancestry individuals/ | ABCC1 | rs12921924-T | + | MODIFIER | chr16 | G | T | |
|
chr16:16002421
|
c.49-5395G>T | Plasma 3-hydroxyoctanoylcarnitine (1) levels in chronic kidney diseaseothers(35): Show | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0010others(42): Show | a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216others(97): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(97): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,958 European ancestry individuals/ | ABCC1 | rs12921924-T | + | MODIFIER | chr16 | G | T | |
|
chr16:16002421
|
c.49-5395G>T | Plasma 3-hydroxyoctanoylcarnitine (2) levels in chronic kidney diseaseothers(35): Show | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0010others(42): Show | a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0216others(97): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(97): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,949 European ancestry individuals/ | ABCC1 | rs12921924-T | + | MODIFIER | chr16 | G | T | |
|
chr16:16043356
|
c.810-1094T>C | Plasma cysteinylglycine disulfide* levels in chronic kidney diseaseothers(32): Show | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(130): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(130): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,960 European ancestry individuals/ | ABCC1 | rs246223-C | + | MODIFIER | chr16 | T | C | |
|
chr16:16034885
|
c.678-1587C>G | Estimated glomerular filtration rate (creatinine)others(16): Show | a0001a0002a0003a0004a0010others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(56): Show | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083others(151): Show | HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 others(151): Show |
Discovery and prioritization of variants and genes others(49): Show |
1,004,040 European ancestry individuals, 165,726 E others(189): Show |
ABCC1 | rs246234-G | + | MODIFIER | chr16 | C | G | |
|
chr16:15967085
|
c.48+17286T>C | Rate of ventricular enlargement0.015 | a0001a0003a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(8): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0008a0001c0001t0010a0001c0001t0011others(22): Show | a0001c0001t0005g0094a0001c0001t0007g0079a0001c0001t0008g0002a0001c0001t0010g0042a0001c0001t0010g0043others(32): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 others(32): Show |
Genome-wide association study identifies SIAH3 loc others(74): Show |
507 European ancestry individuals/ | ABCC1 | ABCC1 | rs4781701-C | + | MODIFIER | chr16 | T | C |
|
chr16:16040137
|
c.809+3534T>C | Mean corpuscular hemoglobin concentrationothers(1): Show | a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(38): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(96): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
642,173 African American or Afro-Caribbean, Africa others(116): Show |
NR | ABCC1 | rs165975-C | + | MODIFIER | chr16 | T | C |
|
chr16:16029191
|
c.616-3918C>A | Response to antiepileptic mood-stabilizing treatment in bipolar disorderothers(35): Show | a0001a0003a0004a0007a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0003g0061a0001c0001t0004g0106a0001c0001t0004g0118others(110): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(110): Show |
Mood Stabilizing Antiepileptic Treatment Response others(53): Show |
199 European ancestry cases/ | ABCC1 | ABCC1 | rs875740-C | + | MODIFIER | chr16 | C | A |
|
chr16:16029602
|
c.616-3507A>T | Serum metabolite levels0.243 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/ | ABCC1 | ABCC1 | rs924135-A | + | MODIFIER | chr16 | A | T |
|
chr16:16029602
|
c.616-3507A>T | Serum metabolite levels0.171 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/ | ABCC1 | ABCC1 | rs924135-A | + | MODIFIER | chr16 | A | T |
|
chr16:16041186
|
c.810-3264T>C | Basophil side fluorescence0.0582997 | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(130): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(130): Show |
A genome-wide association study of blood cell morp others(68): Show |
30,327 European ancestry individuals/ | ABCC1 | rs193537-C | + | MODIFIER | chr16 | T | C | |
|
chr16:15947911
|
c.-1841G>A | Height0.0047 | a0001a0002a0004a0008a0009others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0001t0007others(48): Show | a0001c0001t0001g0138a0001c0001t0001g0174a0001c0001t0001g0179a0001c0001t0001g0210a0001c0001t0001g0213others(109): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 others(109): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
RPL15P20 - ABCC1 | rs4148330-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16004511
|
c.49-3305T>C | Cys-gly, oxidized levels0.114 | a0001a0003a0004a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(54): Show | a0001c0001t0001g0070a0001c0001t0001g0084a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214others(123): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 others(123): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ABCC1 | rs11075289-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16009375
|
c.226-401A>G | Laurylcarnitine levels0.097 | a0001a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(32): Show | a0001c0001t0001g0070a0001c0001t0001g0084a0001c0001t0001g0160a0001c0001t0001g0210a0001c0001t0001g0214others(77): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 others(77): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ABCC1 | rs4781712-A | + | MODIFIER | chr16 | A | G | |
|
chr16:16029602
|
c.616-3507A>T | Nonanoylcarnitine (C9) levels0.16 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16029602
|
c.616-3507A>T | 3-decenoylcarnitine levels0.14 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16029602
|
c.616-3507A>T | 3-hydroxydecanoylcarnitine levels0.13 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16032907
|
c.616-202T>C | Gamma-glutamyltryptophan levels0.16 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924138-C | + | MODIFIER | chr16 | T | C | |
|
chr16:16033378
|
c.677+208G>A | Phenylalanylphenylalanine levels0.23 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16033378
|
c.677+208G>A | Glutarylcarnitine (c5-dc) levels0.16 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs2062541-A | + | MODIFIER | chr16 | G | A | |
|
chr16:16029602
|
c.616-3507A>T | Metabolite levels (succinylcarnitine; succinylcarnitine (C4-DC))others(29): Show | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Whole-Genome Sequencing Analysis of Human Metabolo others(31): Show |
8,969 European, Hispanic or African American indiv others(125): Show |
ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16032907
|
c.616-202T>C |
Metabolite levels (cys-gly, oxidized)0.1 others(2): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Whole-Genome Sequencing Analysis of Human Metabolo others(31): Show |
7,081 European, Hispanic or African American indiv others(125): Show |
ABCC1 | rs924138-C | + | MODIFIER | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Succinylcarnitine levels0.11969231 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ABCC1 | rs924138-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | X-13431 levels0.0616637 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ABCC1 | rs924138-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Succinylcarnitine (c4-dc) levels0.16 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924138-C | + | MODIFIER | chr16 | T | C | |
|
chr16:16029602
|
c.616-3507A>T | Octanoylcarnitine (c8) levels0.17 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16029602
|
c.616-3507A>T | Decanoylcarnitine (C10) levels0.16 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16029602
|
c.616-3507A>T | Laurylcarnitine (C12) levels0.16 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16029602
|
c.616-3507A>T |
Cis-4-decenoylcarnitine (C10:1) levels0. others(2): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16029602
|
c.616-3507A>T | Cys-gly, oxidized levels0.15 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0106a0001c0001t0004g0118a0001c0001t0004g0166others(100): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(100): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924135-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16032907
|
c.616-202T>C | Cysteinylglycine levels0.12 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC1 | rs924138-C | + | MODIFIER | chr16 | T | C | |
|
chr16:16015037
|
c.489+409G>A | Decenoylcarnitine levels0.1221 | a0001a0003a0004a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(52): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0003g0061a0001c0001t0004g0106a0001c0001t0004g0118others(118): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 others(118): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs1967120-? | + | MODIFIER | chr16 | G | A | |
|
chr16:16032907
|
c.616-202T>C | Decenoylcarnitine levels0.1275 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs924138-? | + | MODIFIER | chr16 | T | C | |
|
chr16:16015037
|
c.489+409G>A | Dodecanoylcarnitine levels0.1263 | a0001a0003a0004a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(52): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0003g0061a0001c0001t0004g0106a0001c0001t0004g0118others(118): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 others(118): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs1967120-? | + | MODIFIER | chr16 | G | A | |
|
chr16:16032907
|
c.616-202T>C | Dodecanoylcarnitine levels0.1482 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs924138-? | + | MODIFIER | chr16 | T | C | |
|
chr16:16045857
|
c.1062T>Cp.Asn354Asn | Dodecanoylcarnitine levels0.1327 | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(51): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(131): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(131): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs35587-? | + | LOW | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Decanoylcarnitine levels0.1368 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs924138-? | + | MODIFIER | chr16 | T | C | |
|
chr16:16045857
|
c.1062T>Cp.Asn354Asn | Decanoylcarnitine levels0.1192 | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(51): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(131): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(131): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs35587-? | + | LOW | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Octanoylcarnitine levels0.1218 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs924138-? | + | MODIFIER | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Dodecenoylcarnitine levels0.1413 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs924138-? | + | MODIFIER | chr16 | T | C | |
|
chr16:16045857
|
c.1062T>Cp.Asn354Asn | Dodecenoylcarnitine levels0.1301 | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(51): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(131): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(131): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs35587-? | + | LOW | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Tetradecenoylcarnitine levels0.1237 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs924138-? | + | MODIFIER | chr16 | T | C | |
|
chr16:16015037
|
c.489+409G>A | Decanoylcarnitine levels0.1257 | a0001a0003a0004a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(52): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0003g0061a0001c0001t0004g0106a0001c0001t0004g0118others(118): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 others(118): Show |
Whole Exome Sequencing Enhanced Imputation Identif others(58): Show |
5,505 European ancestry individuals/ | ABCC1 | rs1967120-? | + | MODIFIER | chr16 | G | A | |
|
chr16:16032907
|
c.616-202T>C |
Cis-4-decenoyl carnitine levels0.0652499 others(1): Show |
a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ABCC1 | rs924138-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Decanoylcarnitine levels0.08140341 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ABCC1 | rs924138-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16059083
|
c.1677+2788T>C |
Gamma-glutamylphenylalanine levels0.0824 others(5): Show |
a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0002a0001c0005a0001c0006a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(48): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(118): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(118): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ABCC1 | rs35596-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Glutarylcarnitine (C5) levels0.11853432 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ABCC1 | rs924138-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16032907
|
c.616-202T>C | Laurylcarnitine levels0.08416226 | a0001a0003a0004a0010 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0084a0001c0001t0003g0008a0001c0001t0004g0118a0001c0001t0004g0166a0001c0001t0004g0240others(94): Show | HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ABCC1 | rs924138-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16017755
|
c.615+1134A>T | Basophil percentage of white cells varianceothers(12): Show | a0001a0002a0004a0005a0011 | a0001c0001a0001c0003a0001c0005a0001c0006a0001c0020others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0007a0001c0001t0008others(19): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083a0001c0001t0001g0125others(47): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(47): Show |
Genome-wide analyses of variance in blood cell phe others(71): Show |
404,531 European ancestry individuals/ | ABCC1 | rs165974-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16021035
|
c.615+4414C>T | Basophil percentage of white cells varianceothers(12): Show | a0001a0002a0004a0005a0011 | a0001c0001a0001c0003a0001c0005a0001c0006a0001c0020others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0007a0001c0001t0008others(19): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083a0001c0001t0001g0086others(47): Show | HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 others(47): Show |
Genome-wide analyses of variance in blood cell phe others(71): Show |
404,531 European ancestry individuals/ | ABCC1 | rs246214-T | + | MODIFIER | chr16 | C | T | |
|
chr16:16017755
|
c.615+1134A>T | Basophil count variance0.0196424 | a0001a0002a0004a0005a0011 | a0001c0001a0001c0003a0001c0005a0001c0006a0001c0020others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0007a0001c0001t0008others(19): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083a0001c0001t0001g0125others(47): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(47): Show |
Genome-wide analyses of variance in blood cell phe others(71): Show |
404,717 European ancestry individuals/ | ABCC1 | rs165974-T | + | MODIFIER | chr16 | A | T | |
|
chr16:16021035
|
c.615+4414C>T | Basophil count variance0.0199941 | a0001a0002a0004a0005a0011 | a0001c0001a0001c0003a0001c0005a0001c0006a0001c0020others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0007a0001c0001t0008others(19): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083a0001c0001t0001g0086others(47): Show | HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 others(47): Show |
Genome-wide analyses of variance in blood cell phe others(71): Show |
404,717 European ancestry individuals/ | ABCC1 | rs246214-T | + | MODIFIER | chr16 | C | T | |
|
chr16:16040137
|
c.809+3534T>C | mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed)others(43): Show | a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(38): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(96): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,851 African American or Afro-Caribbean individ others(130): Show |
ABCC1 | rs165975-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16040137
|
c.809+3534T>C | mean corpuscular hemoglobin concentration (MCHC, minimum, inv-norm transformed)others(46): Show | a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(38): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(96): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,841 African American or Afro-Caribbean individ others(130): Show |
ABCC1 | rs165975-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16047966
|
c.1219-176T>C | mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed)others(31): Show | a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(109): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(109): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,852 African American or Afro-Caribbean individ others(130): Show |
ABCC1 | rs35592-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16047966
|
c.1219-176T>C | mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed)others(31): Show | a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(109): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(109): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,836 African American or Afro-Caribbean individ others(130): Show |
ABCC1 | rs35592-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16047966
|
c.1219-176T>C | mean corpuscular hemoglobin (MCH, mean, inv-norm transformed)others(28): Show | a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(109): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(109): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,855 African American or Afro-Caribbean individ others(130): Show |
ABCC1 | rs35592-T | + | MODIFIER | chr16 | T | C | |
|
chr16:16043356
|
c.810-1094T>C | Mean corpuscular hemoglobin concentrationothers(10): Show | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(130): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(130): Show |
A cross-population atlas of genetic associations f others(24): Show |
135,482 East Asian ancestry individuals/ | ABCC1 | rs246223-C | + | MODIFIER | chr16 | T | C | |
|
chr16:16105398
|
c.2736-1340A>G | Mean corpuscular hemoglobin0.016007673 | a0001a0003a0004a0005a0008 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(46): Show | a0001c0001t0001g0040a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0083a0001c0001t0001g0086others(98): Show | HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(98): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ABCC1 | ABCC1 | rs16967755-G | + | MODIFIER | chr16 | A | G |
|
chr16:16047953
|
c.1219-189C>G | Mean corpuscular hemoglobin concentrationothers(6): Show | a0001a0002a0003a0004a0007others(2): Show | a0001c0001a0001c0005a0001c0006a0001c0007a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(109): Show | HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 others(109): Show |
A cross-population atlas of genetic associations f others(24): Show |
350,468 European ancestry individuals, 135,482 Eas others(29): Show |
ABCC1 | rs35591-G | + | MODIFIER | chr16 | C | G | |
|
chr16:16025167
|
c.616-7942A>G | Basophil (fraction, minimum, inv-norm transformed)others(17): Show | a0001a0002a0004a0005a0011 | a0001c0001a0001c0003a0001c0005a0001c0006a0001c0020others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0007a0001c0001t0008others(19): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0083a0001c0001t0001g0084others(48): Show | HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 others(48): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
67,485 African American or Afro-Caribbean individu others(129): Show |
ABCC1 | rs246240-A | + | MODIFIER | chr16 | A | G |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16070243:splice 16070243:variant goto | ABCC1intron_variantc.1825-1399T>C | ABCC1 Breast_Mammary_Tissue 4.083 -0.162 | 103774199 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(69): Show |
