| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:16007952
|
G | A | 0.0040 | missense_variant | MODERATE | HG02451.hp1 | a0005 | a0005c0016 | a0005c0016t0006 | a0005c0016t0006g0088 | 1 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 2/31 | c.185G>A | p.Arg62Gln | 321/6504 | 185/4596 | 62/1531 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:16036500
|
C | T | 0.0161 | synonymous_variant | LOW | HG01496.hp1 HG02451.hp1 HG02647.hp1 others(1): Show |
a0001a0004a0005others(1): Show | a0001c0037a0004c0038a0005c0016others(1): Show | a0001c0037t0012a0004c0038t0006a0005c0016t0006others(1): Show | a0001c0037t0012g0041a0004c0038t0006g0092a0005c0016t0006g0088others(1): Show | 4 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 7/31 | c.706C>T | p.Leu236Leu | 842/6504 | 706/4596 | 236/1531 | ||
|
chr16:16044456
|
G | A | 0.0321 | synonymous_variant | LOW | HG00099.hp2 HG00639.hp1 HG02055.hp1 others(5): Show |
a0001a0005a0006 | a0001c0012a0001c0017a0001c0020others(3): Show | a0001c0012t0002a0001c0012t0011a0001c0012t0012others(5): Show | a0001c0012t0002g0155a0001c0012t0011g0081a0001c0012t0012g0239others(5): Show | 8 | 249 | 0 | ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 8/31 | c.816G>A | p.Pro272Pro | 952/6504 | 816/4596 | 272/1531 | ||
|
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 |
| 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 | 0/0 | a0005 | 1531 | 1 | 1 | 0 | 0 | 0 | 0 | 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 | c0016 | 4596 | 1 | 1 | 0 | 0 | 0 | 0 | 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 | a0005c0016 | 1 | 1 | 0 | 0 | 0 | 0 | 4596 | 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 | -0.9732 | -0.9732 | -0.9732 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16007816 | + | 2 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16007992 | + | 2 | -0.9922 | -0.9921 | -0.9922 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16009776 | + | 3 | 0.9907 | 0.9907 | 0.9907 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16009901 | + | 3 | -0.9973 | -0.9972 | -0.9973 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16014491 | + | 4 | 0.9765 | 0.9765 | 0.9765 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16014628 | + | 4 | -0.9930 | -0.9929 | -0.9930 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16016496 | + | 5 | 0.7494 | 0.7494 | 0.7494 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16016621 | + | 5 | -0.9261 | -0.9261 | -0.9261 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16033109 | + | 6 | 0.9123 | 0.9123 | 0.9123 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16033170 | + | 6 | -0.9447 | -0.9447 | -0.9447 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16036472 | + | 7 | 0.9901 | 0.9901 | 0.9901 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16036603 | + | 7 | -0.9951 | -0.9951 | -0.9951 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16044450 | + | 8 | 0.9925 | 0.9925 | 0.9925 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16044680 | + | 8 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16045836 | + | 9 | 0.9995 | 0.9995 | 0.9995 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16046013 | + | 9 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16048142 | + | 10 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16048303 | + | 10 | -0.9671 | -0.9671 | -0.9671 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16052724 | + | 11 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16052816 | + | 11 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16056092 | + | 12 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16056295 | + | 12 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16068156 | + | 13 | 0.9922 | 0.9922 | 0.9922 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16068302 | + | 13 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16071642 | + | 14 | 0.9942 | 0.9942 | 0.9942 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16071729 | + | 14 | -0.9852 | -0.9852 | -0.9852 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16076326 | + | 15 | 0.9853 | 0.9853 | 0.9853 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16076401 | + | 15 | -0.9787 | -0.9787 | -0.9787 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16079352 | + | 16 | 0.9327 | 0.9327 | 0.9327 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16079478 | + | 16 | -0.9798 | -0.9798 | -0.9798 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16083366 | + | 17 | 0.9875 | 0.9875 | 0.9875 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16083542 | + | 17 | -0.9366 | -0.9366 | -0.9366 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16086824 | + | 18 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16086991 | + | 18 | -0.9960 | -0.9960 | -0.9960 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16090405 | + | 19 | 0.9940 | 0.9940 | 0.9940 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16090588 | + | 19 | -0.9939 | -0.9939 | -0.9939 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16102627 | + | 20 | 0.9834 | 0.9834 | 0.9834 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16102717 | + | 20 | -0.9857 | -0.9857 | -0.9857 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16106738 | + | 21 | 0.9845 | 0.9845 | 0.9845 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16106873 | + | 21 | -0.9830 | -0.9830 | -0.9830 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16111375 | + | 22 | 0.9982 | 0.9981 | 0.9982 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16111582 | + | 22 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16114766 | + | 23 | 0.9874 | 0.9874 | 0.9874 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16115076 | + | 23 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16121975 | + | 24 | 0.9923 | 0.9923 | 0.9923 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16122174 | + | 24 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16124789 | + | 25 | 0.9908 | 0.9908 | 0.9908 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16124915 | + | 25 | -0.9813 | -0.9812 | -0.9813 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16125810 | + | 26 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16125911 | + | 26 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16131789 | + | 27 | 0.9901 | 0.9901 | 0.9901 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16131935 | + | 27 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16134350 | + | 28 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16134508 | + | 28 | -0.9962 | -0.9962 | -0.9962 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16136478 | + | 29 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16136644 | + | 29 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16138364 | + | 30 | 0.9930 | 0.9930 | 0.9930 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16138558 | + | 30 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | ABCC1 | chr16 | 15944616 | 16148053 |
| 16141173 | + | 31 | 0.9910 | 0.9910 | 0.9910 | 0.0000 | donor | a0005c0016 | HG02451.hp1 | HG02451.hp1 | 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 |
| 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 |
| 16089188:splice 16089188:variant goto | c.2461-1217G>A | 126861 | association | ABCC1:4363 | SO:0001627 intron_variant |
MONDO:MONDO:0016419 MedGen:C0346153 OMIM:114480 Orphanet:227535 |
+ | 5 | 20 | 47 | 85 | a0001a0004a0005a0006a0010 | a0001c0001a0001c0002a0001c0004a0001c0007a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0040a0001c0001t0001g0070a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0086others(80): Show | HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 others(80): Show |
MODIFIER | chr16 | G | A | TogoVar |
| 16007952:splice 16007952:variant goto | c.185G>Ap.Arg62Gln | 3049946 | Benign | ABCC1:4363 | SO:0001583 missense_variant |
. | + | 1 | 1 | 1 | 1 | a0005 | a0005c0016 | a0005c0016t0006 | a0005c0016t0006g0088 | HG02451.hp1 | MODERATE | chr16 | G | A | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:15953968
|
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 |
|
chr16:15971544
|
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 |
|
chr16:16055069
|
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 | |
|
chr16:16043356
|
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 | |
|
chr16:16041186
|
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 | |
|
chr16:16045857
|
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 | |
|
chr16:16045857
|
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 | |
|
chr16:16045857
|
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 | |
|
chr16:16017755
|
c.615+1134A>T |
Basophil percentage of white cells variance others(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 variance others(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 | |
|
chr16:16043356
|
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 |
|
chr16:16025167
|
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 |