| geneid | 10257 |
|---|---|
| ensemblid | ENSG00000125257.16 |
| hgncid | 55 |
| symbol | ABCC4 |
| name | ATP binding cassette subfamily C member 4 |
| refseq_nuc | NM_005845.5 |
| refseq_prot | NP_005836.2 |
| ensembl_nuc | ENST00000645237.2 |
| ensembl_prot | ENSP00000494609.1 |
| mane_status | MANE Select |
| chr | chr13 |
| start | 95019835 |
| end | 95301451 |
| strand | - |
| ver | v1.2 |
| region | chr13:95019835-95301451 |
| region5000 | chr13:95014835-95306451 |
| regionname0 | ABCC4_chr13_95019835_95301451 |
| regionname5000 | ABCC4_chr13_95014835_95306451 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC4 | 1/1 | a0001 | 1325 | 156 | 57 | 33 | 44 | 8 | 12 | subcellular location copy fasta | chr13 | 95014835 | 95306451 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 95301241 | - | 1 | -0.9786 | -0.9766 | -0.9686 | 0.0100 | acceptor | a0001 | HG02723.hp2 | NA20129.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95247643 | - | 2 | -0.9996 | -0.9995 | -0.9994 | 0.0002 | acceptor | a0001 | HG00673.hp1 HG01099.hp1 HG01099.hp2 homoSapiens_chm13v2.hp1 |
HG02717.hp2 HG02818.hp1 HG03471.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95247753 | - | 2 | 0.9978 | 0.9975 | 0.9971 | 0.0007 | donor | a0001 | HG01192.hp2 HG02976.hp2 NA18994.hp2 NA19012.hp2 |
NA21309.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95246975 | - | 3 | -0.4942 | -0.4744 | -0.3006 | 0.1936 | acceptor | a0001 | NA18522.hp1 | homoSapiens_chm13v2.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95247095 | - | 3 | 0.5740 | 0.5520 | 0.4106 | 0.1634 | donor | a0001 | NA19009.hp2 | HG02155.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95234610 | - | 4 | -0.8997 | -0.8591 | -0.8320 | 0.0676 | acceptor | a0001 | HG02080.hp1 HG02155.hp2 HG02965.hp2 NA18979.hp2 |
HG03041.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95234834 | - | 4 | 0.9936 | 0.9932 | 0.9928 | 0.0008 | donor | a0001 | HG01169.hp2 | HG02559.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95210692 | - | 5 | -0.9992 | -0.9991 | -0.9988 | 0.0004 | acceptor | a0001 | HG02622.hp1 | HG01981.hp1 NA20300.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95210781 | - | 5 | 0.9980 | 0.9975 | 0.9973 | 0.0007 | donor | a0001 | NA18951.hp2 NA19002.hp2 NA19074.hp2 |
HG01981.hp1 NA20300.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95209434 | - | 6 | -0.9980 | -0.9977 | -0.9963 | 0.0017 | acceptor | a0001 | HG03831.hp2 | HG01981.hp1 NA20300.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95209597 | - | 6 | 0.9977 | 0.9971 | 0.9967 | 0.0010 | donor | a0001 | NA19009.hp2 | HG02280.hp1 HG03139.hp1 NA19240.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95207800 | - | 7 | -0.9874 | -0.9829 | -0.9810 | 0.0064 | acceptor | a0001 | HG01256.hp2 HG01981.hp2 |
NA18979.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95207925 | - | 7 | 0.9569 | 0.9023 | 0.8866 | 0.0703 | donor | a0001 | HG00280.hp2 | HG02080.hp1 HG02155.hp2 HG02965.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95206532 | - | 8 | -0.9989 | -0.9986 | -0.9980 | 0.0009 | acceptor | a0001 | HG00280.hp2 | HG00738.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95206781 | - | 8 | 0.9939 | 0.9935 | 0.9930 | 0.0008 | donor | a0001 | HG01069.hp1 | HG00423.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95194836 | - | 9 | -0.9944 | -0.9935 | -0.9920 | 0.0024 | acceptor | a0001 | HG01891.hp1 | HG02647.hp1 HG02896.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95194937 | - | 9 | 0.9964 | 0.9960 | 0.9945 | 0.0019 | donor | a0001 | HG02148.hp2 HG03831.hp2 |
HG00558.hp1 NA18959.hp2 NA18988.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95188453 | - | 10 | -0.9058 | -0.8942 | -0.8784 | 0.0274 | acceptor | a0001 | NA18988.hp2 | homoSapiens_chm13v2.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95188542 | - | 10 | 0.8152 | 0.7884 | 0.7798 | 0.0354 | donor | a0001 | HG02723.hp2 HG03139.hp2 |
HG03704.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95186701 | - | 11 | -0.9982 | -0.9980 | -0.9976 | 0.0007 | acceptor | a0001 | HG03704.hp1 | HG01952.hp2 HG02129.hp2 HG02148.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95186892 | - | 11 | 0.9937 | 0.9911 | 0.9890 | 0.0047 | donor | a0001 | NA18985.hp2 | HG03704.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95177997 | - | 12 | -0.9987 | -0.9983 | -0.9982 | 0.0005 | acceptor | a0001 | NA19030.hp1 | NA19074.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95178091 | - | 12 | 0.9994 | 0.9993 | 0.9993 | 0.0001 | donor | a0001 | NA19074.hp2 | HG00280.hp1 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 others(12): Show |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95177707 | - | 13 | -0.9928 | -0.9919 | -0.9905 | 0.0023 | acceptor | a0001 | HG01975.hp1 HG03704.hp2 NA19010.hp1 homoSapiens_chm13v2.hp1 |
HG02257.hp2 HG02280.hp1 HG03540.hp2 NA19240.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95177793 | - | 13 | 0.9946 | 0.9941 | 0.9937 | 0.0010 | donor | a0001 | HG02630.hp2 | HG01099.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95170532 | - | 14 | -0.9916 | -0.9907 | -0.9901 | 0.0015 | acceptor | a0001 | homoSapiens_chm13v2.hp1 | HG03041.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95170628 | - | 14 | 0.9895 | 0.9880 | 0.9864 | 0.0031 | donor | a0001 | HG01433.hp2 | NA18985.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95166158 | - | 15 | -0.9943 | -0.9921 | -0.9837 | 0.0105 | acceptor | a0001 | HG01109.hp2 | HG01346.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95166367 | - | 15 | 0.9877 | 0.9818 | 0.9671 | 0.0206 | donor | a0001 | HG01109.hp2 | HG01346.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95164378 | - | 16 | -0.9980 | -0.9978 | -0.9972 | 0.0008 | acceptor | a0001 | HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03579.hp2 others(2): Show |
HG03704.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95164518 | - | 16 | 0.9961 | 0.9959 | 0.9952 | 0.0010 | donor | a0001 | HG02818.hp2 | HG03704.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95163610 | - | 17 | -0.9945 | -0.9938 | -0.9896 | 0.0049 | acceptor | a0001 | HG01496.hp1 | HG01069.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95163647 | - | 17 | 0.9960 | 0.9952 | 0.9950 | 0.0009 | donor | a0001 | HG01069.hp1 HG01346.hp1 HG02148.hp1 |
HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03579.hp2 others(2): Show |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95163122 | - | 18 | -0.9812 | -0.9805 | -0.9764 | 0.0048 | acceptor | a0001 | HG02083.hp2 | HG01884.hp2 HG02257.hp2 HG02451.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95163216 | - | 18 | 0.8925 | 0.8853 | 0.8568 | 0.0357 | donor | a0001 | HG00642.hp1 | HG03540.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95161189 | - | 19 | -0.9919 | -0.9911 | -0.9893 | 0.0026 | acceptor | a0001 | HG01169.hp1 HG02602.hp2 |
HG02148.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95161335 | - | 19 | 0.9915 | 0.9909 | 0.9901 | 0.0015 | donor | a0001 | HG01975.hp2 | NA19088.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95115922 | - | 20 | -0.9946 | -0.9941 | -0.9928 | 0.0018 | acceptor | a0001 | NA18979.hp2 | HG01074.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95116001 | - | 20 | 0.9954 | 0.9951 | 0.9932 | 0.0022 | donor | a0001 | NA18979.hp2 | HG01099.hp2 HG01433.hp2 HG02083.hp2 HG03540.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95083140 | - | 21 | -0.9868 | -0.9813 | -0.9798 | 0.0070 | acceptor | a0001 | HG01884.hp2 HG02055.hp2 HG02451.hp2 |
HG02083.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95083290 | - | 21 | 0.9907 | 0.9885 | 0.9859 | 0.0048 | donor | a0001 | HG02818.hp2 HG03209.hp1 HG03540.hp1 |
HG01109.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95075432 | - | 22 | -0.9870 | -0.9853 | -0.9780 | 0.0090 | acceptor | a0001 | HG02559.hp2 | HG01975.hp2 HG03041.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95075551 | - | 22 | 0.9855 | 0.9832 | 0.9694 | 0.0161 | donor | a0001 | HG00642.hp1 HG01346.hp1 HG01433.hp2 HG01952.hp1 HG02083.hp2 others(1): Show |
HG01981.hp1 HG03209.hp2 NA20300.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95074214 | - | 23 | -0.9762 | -0.9751 | -0.9488 | 0.0274 | acceptor | a0001 | HG02602.hp1 | HG01975.hp2 HG03041.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95074324 | - | 23 | 0.9780 | 0.9769 | 0.9585 | 0.0195 | donor | a0001 | HG02818.hp1 | HG01975.hp2 HG03041.hp2 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95073204 | - | 24 | -0.9788 | -0.9775 | -0.9713 | 0.0075 | acceptor | a0001 | HG02280.hp1 NA19030.hp1 |
HG00323.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp2 HG02622.hp1 others(14): Show |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95073304 | - | 24 | 0.9754 | 0.9729 | 0.9697 | 0.0057 | donor | a0001 | HG01243.hp1 | HG00323.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp2 HG02622.hp1 others(14): Show |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95071662 | - | 25 | -0.9405 | -0.9387 | -0.9187 | 0.0218 | acceptor | a0001 | HG01109.hp2 HG01884.hp2 HG02055.hp2 HG02451.hp2 HG03041.hp1 others(2): Show |
homoSapiens_chm13v2.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95071853 | - | 25 | 0.9762 | 0.9717 | 0.9649 | 0.0112 | donor | a0001 | HG01109.hp2 HG01884.hp2 HG02055.hp2 HG02451.hp2 HG03041.hp1 others(2): Show |
homoSapiens_chm13v2.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95062704 | - | 26 | -0.9708 | -0.8666 | -0.8107 | 0.1601 | acceptor | a0001 | HG01109.hp2 HG01884.hp2 HG02055.hp2 HG02451.hp2 HG03098.hp2 others(1): Show |
NA18979.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95062859 | - | 26 | 0.9404 | 0.7966 | 0.7249 | 0.2156 | donor | a0001 | NA18968.hp1 | HG01069.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95053095 | - | 27 | -0.9782 | -0.9452 | -0.9077 | 0.0705 | acceptor | a0001 | HG02451.hp2 | HG01169.hp2 HG02602.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95053184 | - | 27 | 0.9811 | 0.9677 | 0.9593 | 0.0218 | donor | a0001 | NA19043.hp1 | HG02451.hp2 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95044266 | - | 28 | -0.9937 | -0.9934 | -0.9908 | 0.0029 | acceptor | a0001 | HG00280.hp2 HG00642.hp2 HG01261.hp2 |
HG02723.hp1 HG02886.hp1 NA19240.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95044438 | - | 28 | 0.9920 | 0.9914 | 0.9882 | 0.0038 | donor | a0001 | HG03579.hp1 | HG02723.hp1 HG02886.hp1 NA19240.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95043682 | - | 29 | -0.9981 | -0.9980 | -0.9977 | 0.0004 | acceptor | a0001 | HG01884.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
HG00558.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 95043787 | - | 29 | 0.9990 | 0.9989 | 0.9989 | 0.0001 | donor | a0001 | HG01074.hp1 HG01975.hp2 HG02280.hp1 HG02818.hp2 HG02922.hp2 others(4): Show |
HG02723.hp1 HG02886.hp1 NA19240.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95034605 | - | 30 | -0.9979 | -0.9977 | -0.9973 | 0.0007 | acceptor | a0001 | HG02818.hp2 | HG01109.hp2 HG02055.hp2 HG03041.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95034739 | - | 30 | 0.9955 | 0.9950 | 0.9934 | 0.0021 | donor | a0001 | HG02602.hp2 | HG01109.hp2 HG02055.hp2 HG03041.hp1 |
ABCC4 | chr13 | 95014835 | 95306451 |
| 95021682 | - | 31 | 0.6454 | 0.5829 | 0.5160 | 0.1294 | donor | a0001 | HG02055.hp2 | homoSapiens_grch38.hp1 | ABCC4 | chr13 | 95014835 | 95306451 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 95234844:splice 95234844:variant goto | c.307-10C>T | 781122 | Benign | ABCC4:10257 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0027 | HG02559.hp2 | MODIFIER | chr13 | G | A | TogoVar |
| 95166374:splice 95166374:variant goto | c.1825-7A>G | 717315 | Benign | ABCC4:10257 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 4 | 4 | 4 | a0001a0002 | a0001c0003a0001c0010a0001c0040a0002c0064 | a0001c0003t0003a0001c0010t0001a0001c0040t0003a0002c0064t0006 | a0001c0003t0003g0135a0001c0010t0001g0150a0001c0040t0003g0124a0002c0064t0006g0045 | HG01109.hp2 HG02965.hp1 HG03139.hp2 HG03579.hp1 |
LOW | chr13 | T | C | TogoVar |
| 95247636:splice 95247636:variant goto | c.185+7C>T | 776803 | Benign | ABCC4:10257 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 5 | 6 | 6 | a0001 | a0001c0009a0001c0013a0001c0025a0001c0026a0001c0045 | a0001c0009t0001a0001c0013t0001a0001c0013t0006a0001c0025t0002a0001c0026t0005others(1): Show | a0001c0009t0001g0128a0001c0013t0001g0037a0001c0013t0006g0031a0001c0025t0002g0075a0001c0026t0005g0133others(1): Show | HG02055.hp2 HG02257.hp2 HG02280.hp1 HG03098.hp2 HG03139.hp1 others(1): Show |
LOW | chr13 | G | A | TogoVar |
| 95164453:splice 95164453:variant goto | c.2100C>Tp.Ala700Ala | 779444 | Benign | ABCC4:10257 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MedGen:C3661900 | - | 2 | 2 | 2 | 2 | a0001a0002 | a0001c0052a0002c0063 | a0001c0052t0002a0002c0063t0001 | a0001c0052t0002g0068a0002c0063t0001g0070 | HG02735.hp1 HG03704.hp2 |
LOW | chr13 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:95222702
|
c.531+11908A>G | Breast cancer | a0001a0002a0003a0005a0006others(9): Show | a0001c0001a0001c0002a0001c0003a0001c0009a0001c0011others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(79): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0083a0001c0001t0001g0084others(167): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(167): Show |
A genome-wide association study of breast and pros others(50): Show |
58 cases, 665 controls/ | ABCC4 | ABCC4 | rs1926657-? | - | MODIFIER | chr13 | T | C |
|
chr13:95028031
|
c.3871-6349C>T | Longevity | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(71): Show | a0001c0001t0001g0083a0001c0001t0001g0169a0001c0001t0001g0189a0001c0001t0002g0066a0001c0001t0002g0080others(133): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 others(133): Show |
Joint influence of small-effect genetic variants o others(18): Show |
1,173 individuals/ | ABCC4 | ABCC4 | rs4148546-? | - | MODIFIER | chr13 | G | A |
|
chr13:95247462
|
c.185+181G>T | Platelet count0.05872 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
108,208 Japanese ancestry individuals/ | ABCC4 | ABCC4 | rs4148435-? | - | MODIFIER | chr13 | C | A |
|
chr13:95245953
|
c.306+1022T>C | Platelet count4.117 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
New gene functions in megakaryopoiesis and platele others(12): Show |
38,891 European ancestry individuals, 1,661 Val Bo others(476): Show |
ABCC4 | ABCC4 | rs4148441-G | - | MODIFIER | chr13 | A | G |
|
chr13:95163281
|
c.2214-65T>C | Airway responsiveness in chronic obstructive pulmonary diseaseothers(27): Show | a0001a0002a0004a0007a0008others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020a0001c0002t0001a0001c0002t0002others(54): Show | a0001c0001t0001g0163a0001c0001t0001g0211a0001c0001t0002g0080a0001c0001t0002g0106a0001c0001t0002g0201others(73): Show | HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG01074.hp1 others(73): Show |
Genome-Wide Association Study Identification of No others(88): Show |
Up to 4,108 European American cases/ | ABCC4 | ABCC4 | rs3765535-G | - | MODIFIER | chr13 | A | G |
|
chr13:95081843
|
c.2686+1297T>C | Metabolite levels0.40619656 | a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0083a0001c0001t0001g0169a0001c0001t0001g0189a0001c0003t0001g0233a0002c0004t0001g0182 | HG00280.hp1 HG00639.hp2 HG01361.hp1 HG02258.hp2 HG04199.hp1 |
A genome-wide association study of the human metab others(34): Show |
2,076 European ancestry individuals/ | CLDN10 | ABCC4 | rs11620327-? | - | MODIFIER | chr13 | A | G |
|
chr13:95123178
|
c.2456-7177G>A | Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancerothers(48): Show | a0001a0002a0003a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0005a0001c0007t0019a0001c0009t0001others(12): Show | a0001c0001t0001g0206a0001c0002t0001g0181a0001c0002t0001g0188a0001c0002t0001g0238a0001c0003t0005g0077others(14): Show | HG00558.hp1 HG01109.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 others(14): Show |
A genome-wide association study of survival in sma others(81): Show |
139 individuals/ | ABCC4 | ABCC4 | rs16950650-T | - | MODIFIER | chr13 | C | T |
|
chr13:95248822
|
c.75-1069C>T | Colorectal cancer1.08 | a0001a0002a0003a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0011a0001c0014a0001c0039others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002a0001c0011t0002a0001c0014t0007others(17): Show | a0001c0001t0001g0084a0001c0001t0001g0211a0001c0002t0001g0109a0001c0002t0001g0110a0001c0002t0002g0125others(28): Show | HG01074.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01952.hp1 others(28): Show |
Identification of novel loci and new risk variant others(56): Show |
23,572 East Asian ancestry cases, 48,700 East Asia others(85): Show |
ABCC4 | rs12855244-A | - | MODIFIER | chr13 | G | A | |
|
chr13:95027878
|
c.3871-6196A>G |
Acute post-radiotherapy pain in breast cancer others(9): Show |
a0001a0002a0003a0004a0005others(10): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(95): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0083a0001c0001t0001g0084others(210): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(210): Show |
Genome-wide enriched pathway analysis of acute pos others(74): Show |
136 Hispanic cases, 75 European ancestry cases, 10 others(134): Show |
ABCC4, MRP4 | ABCC4 | rs4584690-T | - | MODIFIER | chr13 | T | C |
|
chr13:95118171
|
c.2456-2170C>T | Postherpetic neuralgia | a0001a0002a0003a0004a0005others(10): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0008a0001c0001t0020others(97): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0083a0001c0001t0001g0084others(197): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(197): Show |
Genome-wide association study identifies candidate others(62): Show |
89 Japanese ancestry cases, 282 Japanese ancestry others(9): Show |
ABCC4 | ABCC4 | rs4773840-? | - | MODIFIER | chr13 | G | A |
|
chr13:95245953
|
c.306+1022T>C | Platelet count3.650684 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Genetic analyses of diverse populations improves d others(28): Show |
8,850 African American individuals, 18,949 Hispani others(112): Show |
NR | ABCC4 | rs4148441-? | - | MODIFIER | chr13 | A | G |
|
chr13:95242683
|
c.306+4292G>A | Plateletcrit0.07672933 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(56): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(103): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(197): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(197): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
164,339 European ancestry individuals/ | ABCC4 | ABCC4 | rs9516547-T | - | MODIFIER | chr13 | C | T |
|
chr13:95248987
|
c.75-1234G>A | Plateletcrit0.04226349 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0001t0020a0001c0002t0001others(72): Show | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0126a0001c0001t0001g0154a0001c0001t0001g0169others(127): Show | HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
164,339 European ancestry individuals/ | ABCC4 | ABCC4 | rs4773860-T | - | MODIFIER | chr13 | C | T |
|
chr13:95242373
|
c.306+4602C>T | Platelet count0.03508941 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0020others(74): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0126a0001c0001t0001g0144a0001c0001t0001g0154others(136): Show | HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp2 others(136): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
166,066 European ancestry individuals/ | ABCC4 | ABCC4 | rs9524862-A | - | MODIFIER | chr13 | G | A |
|
chr13:95247462
|
c.185+181G>T | Platelet count0.07469402 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
166,066 European ancestry individuals/ | ABCC4 | ABCC4 | rs4148435-A | - | MODIFIER | chr13 | C | A |
|
chr13:95244936
|
c.306+2039T>C | Platelet-to-lymphocyte ratio | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(103): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(200): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(200): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
234,552 European ancestry individuals/100,478 Euro others(25): Show |
ABCC4 | rs4148448-A | - | MODIFIER | chr13 | A | G | |
|
chr13:95241258
|
c.306+5717T>C | Platelet count | a0001a0002a0003a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0020others(78): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0126a0001c0001t0001g0144a0001c0001t0001g0154others(139): Show | HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 others(139): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
235,256 European ancestry individuals/100,764 Euro others(25): Show |
ABCC4 | rs2892714-A | - | MODIFIER | chr13 | A | G | |
|
chr13:95244936
|
c.306+2039T>C | Platelet count | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(103): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(200): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(200): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
235,256 European ancestry individuals/100,764 Euro others(25): Show |
ABCC4 | rs4148448-A | - | MODIFIER | chr13 | A | G | |
|
chr13:95242669
|
c.306+4306C>T | Platelet-to-lymphocyte ratio | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0020others(75): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0126a0001c0001t0001g0144a0001c0001t0001g0154others(137): Show | HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 others(137): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
335,030 European ancestry, NR ancestry individuals others(1): Show |
ABCC4 | rs9302051-? | - | MODIFIER | chr13 | G | A | |
|
chr13:95245105
|
c.306+1870G>A | Platelet count during first trimester of pregnancyothers(17): Show | a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(101): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(198): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
Genetic Basis of Altered Platelet Counts and Gesta others(37): Show |
72,816 Chinese ancestry individuals/ | ABCC4 | rs4148445-C | - | MODIFIER | chr13 | C | T | |
|
chr13:95245105
|
c.306+1870G>A | Platelet count during second trimester of pregnancyothers(18): Show | a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(101): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(198): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
Genetic Basis of Altered Platelet Counts and Gesta others(37): Show |
72,816 Chinese ancestry individuals/ | ABCC4 | rs4148445-C | - | MODIFIER | chr13 | C | T | |
|
chr13:95245105
|
c.306+1870G>A | Platelet count during third trimester of pregnancyothers(17): Show | a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(101): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(198): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
Genetic Basis of Altered Platelet Counts and Gesta others(37): Show |
72,816 Chinese ancestry individuals/ | ABCC4 | rs4148445-C | - | MODIFIER | chr13 | C | T | |
|
chr13:95245105
|
c.306+1870G>A |
Platelet count during postpartum period others(6): Show |
a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(101): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(198): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
Genetic Basis of Altered Platelet Counts and Gesta others(37): Show |
34,457 Chinese ancestry individuals/ | ABCC4 | rs4148445-C | - | MODIFIER | chr13 | C | T | |
|
chr13:95244245
|
c.306+2730T>C | Platelet count0.059 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Genetic architecture of routinely acquired blood t others(37): Show |
38,000 South Asian ancestry individuals/ | ABCC4 | rs7324464-G | - | MODIFIER | chr13 | A | G | |
|
chr13:95261421
|
c.75-13668G>C | N-acetylcarnosine levels0.243231 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,233 European ancestry individuals/ | ABCC4 | rs9524869-G | - | MODIFIER | chr13 | C | G | |
|
chr13:95283173
|
c.74+18068C>T | Adenosine 3',5'-cyclic monophosphate (camp) levelsothers(17): Show | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0002t0001others(57): Show | a0001c0001t0001g0064a0001c0001t0001g0103a0001c0001t0001g0126a0001c0001t0001g0144a0001c0001t0001g0163others(121): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 others(121): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
6,756 European ancestry individuals/ | ABCC4 | rs9516557-A | - | MODIFIER | chr13 | G | A | |
|
chr13:95270511
|
c.75-22758A>G | X-12244--N-acetylcarnosine levels0.024 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(78): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0169a0001c0001t0001g0189others(106): Show | HG00280.hp1 HG01074.hp1 HG01074.hp2 HG01192.hp2 HG01243.hp1 others(106): Show |
An atlas of genetic influences on human blood meta others(8): Show |
6,608 European ancestry individuals/ | ABCC4 | rs8002180-T | - | MODIFIER | chr13 | T | C | |
|
chr13:95261421
|
c.75-13668G>C | Plasma N-acetylcarnosine levels in chronic kidney diseaseothers(22): Show | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,933 European ancestry individuals/ | ABCC4 | rs9524869-G | - | MODIFIER | chr13 | C | G | |
|
chr13:95261421
|
c.75-13668G>C | Urine N-acetylcarnosine levels in chronic kidney diseaseothers(21): Show | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,909 European ancestry individuals/ | ABCC4 | rs9524869-G | - | MODIFIER | chr13 | C | G | |
|
chr13:95261421
|
c.75-13668G>C | Urine argininosuccinate levels in chronic kidney diseaseothers(21): Show | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,911 European ancestry individuals/ | ABCC4 | rs9524869-G | - | MODIFIER | chr13 | C | G | |
|
chr13:95244067
|
c.306+2908A>G | Platelet count0.057292 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
145,648 East Asian ancestry individuals/ | NR | ABCC4 | rs6492772-T | - | MODIFIER | chr13 | T | C |
|
chr13:95244245
|
c.306+2730T>C | Platelet count | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
721,201 African American or Afro-Caribbean, Africa others(116): Show |
NR | ABCC4 | rs7324464-G | - | MODIFIER | chr13 | A | G |
|
chr13:95244245
|
c.306+2730T>C | Platelet count0.069386 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
542,827 European ancestry individuals/ | NR | ABCC4 | rs7324464-G | - | MODIFIER | chr13 | A | G |
|
chr13:95261421
|
c.75-13668G>C | Serum metabolite levels0.296 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/ | ABCC4 | ABCC4 | rs9524869-C | - | MODIFIER | chr13 | C | G |
|
chr13:95146752
|
c.2455+14437C>T | Prostate-specific antigen levels0.059 | a0001a0002a0006 | a0001c0001a0001c0003a0002c0005a0006c0027 | a0001c0001t0001a0001c0001t0008a0001c0003t0002a0002c0005t0002a0006c0027t0002 | a0001c0001t0001g0169a0001c0001t0008g0246a0001c0003t0002g0076a0002c0005t0002g0158a0006c0027t0002g0194 | HG01255.hp1 HG02129.hp2 HG02258.hp2 HG03239.hp1 HG03704.hp1 |
Genetically adjusted PSA levels for prostate cance others(12): Show |
85,824 European ancestry individuals, 3,509 Africa others(126): Show |
ABCC4 | rs61965887-A | - | MODIFIER | chr13 | G | A | |
|
chr13:95244162
|
c.306+2813C>T | C-glycosyltryptophan levels | a0001a0002a0003a0006a0013 | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0012others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0002t0002a0001c0002t0014others(26): Show | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103a0001c0001t0001g0163a0001c0001t0002g0066others(45): Show | HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 others(45): Show |
Metabolome-wide association identifies ferredoxin- others(97): Show |
1,876 East Asian ancestry, South Asian ancestry, S others(37): Show |
ABCC4 | rs10508018-? | - | MODIFIER | chr13 | G | A | |
|
chr13:95172789
|
c.1728-2161T>C | Gut microbial network clusters (Pink (at 1 year) x Household furry pet dog (3 Months) interactionothers(61): Show | a0001a0002a0003a0004a0005others(10): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(84): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0126others(157): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(157): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(236): Show |
ABCC4 | rs1189460-A | - | MODIFIER | chr13 | A | G | |
|
chr13:95245953
|
c.306+1022T>C | Platelet count | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Analysis across Taiwan Biobank, Biobank Japan, and others(73): Show |
92,615 Taiwanese ancestry individuals/ | ABCC4 | rs4148441-? | - | MODIFIER | chr13 | A | G | |
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chr13:95146752
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c.2455+14437C>T | Prostate-specific antigen levels0.0486 | a0001a0002a0006 | a0001c0001a0001c0003a0002c0005a0006c0027 | a0001c0001t0001a0001c0001t0008a0001c0003t0002a0002c0005t0002a0006c0027t0002 | a0001c0001t0001g0169a0001c0001t0008g0246a0001c0003t0002g0076a0002c0005t0002g0158a0006c0027t0002g0194 | HG01255.hp1 HG02129.hp2 HG02258.hp2 HG03239.hp1 HG03704.hp1 |
Genome-wide association study of prostate-specific others(98): Show |
61,745 African ancestry individuals, 6,967 Asian a others(106): Show |
ABCC4 | rs61965887-A | - | MODIFIER | chr13 | G | A | |
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chr13:95135242
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c.2456-19241C>A | Pulmonary embolism0.55 | a0001a0002a0004a0006a0015others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0002t0001others(33): Show | a0001c0001t0001g0163a0001c0001t0001g0169a0001c0001t0001g0171a0001c0001t0002g0197a0001c0001t0006g0028others(48): Show | HG00423.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01255.hp1 others(48): Show |
Genome-wide association analyses identified novel others(72): Show |
622 Han Chinese ancestry cases, 8,853 Han Chinese others(85): Show |
ABCC4 | rs4148515-T | - | MODIFIER | chr13 | G | T | |
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chr13:95261421
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c.75-13668G>C | N-acetylcarnosine levels0.226 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ABCC4 | rs9524869-G | - | MODIFIER | chr13 | C | G | |
|
chr13:95265809
|
c.75-18056C>T | N-acetylcarnosine levels0.24 | a0001a0002a0005a0006a0009others(4): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(34): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0002a0001c0003t0002a0001c0003t0005others(44): Show | a0001c0001t0006g0028a0001c0002t0001g0109a0001c0002t0001g0110a0001c0002t0002g0048a0001c0002t0002g0125others(58): Show | HG01074.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 others(58): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ABCC4 | rs870004-A | - | MODIFIER | chr13 | G | A | |
|
chr13:95275132
|
c.74+26109C>T | N-acetylcarnosine levels0.145 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0002t0001others(40): Show | a0001c0001t0001g0103a0001c0001t0001g0126a0001c0001t0001g0163a0001c0001t0001g0171a0001c0001t0001g0173others(65): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 others(65): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ABCC4 | rs9524873-A | - | MODIFIER | chr13 | G | A | |
|
chr13:95261421
|
c.75-13668G>C |
Metabolite levels (N-acetylcarnosine)0.2 others(1): Show |
a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
Whole-Genome Sequencing Analysis of Human Metabolo others(31): Show |
9,181 European, Hispanic or African American indiv others(125): Show |
ABCC4 | rs9524869-G | - | MODIFIER | chr13 | C | G | |
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chr13:95083751
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c.2536-461C>G | Oligodendroglioma4.156195 | a0001a0002 | a0001c0014a0002c0015 | a0001c0014t0007a0002c0015t0007 | a0001c0014t0007g0172a0002c0015t0007g0091 | HG01099.hp2 HG03491.hp1 |
Multi-ancestry genome-wide association study of 4, others(54): Show |
90 European ancestry cases, 7,183 European ancestr others(294): Show |
ABCC4 | rs113591676-? | - | MODIFIER | chr13 | G | C | |
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chr13:95247462
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c.185+181G>T | Platelet count3.17185 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Phenome-wide analysis of Taiwan Biobank reveals no others(57): Show |
76,345 Taiwanese ancestry individuals/ | ABCC4 | rs4148435-? | - | MODIFIER | chr13 | C | A | |
|
chr13:95261421
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c.75-13668G>C | N-acetylcarnosine levels0.33 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
Genome-wide association studies of metabolites in others(43): Show |
6,136 Finnish ancestry individuals/ | ABCC4 | rs9524869-G | - | MODIFIER | chr13 | C | G | |
|
chr13:95261421
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c.75-13668G>C | N-acetylcarnosine levels0.3072677 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0002t0001a0001c0002t0002others(69): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0002g0080others(91): Show | HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 others(91): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ABCC4 | rs9524869-C | - | MODIFIER | chr13 | C | G | |
|
chr13:95271136
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c.75-23383G>A | Height0.0065 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(76): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144a0001c0001t0001g0169a0001c0001t0001g0189others(102): Show | HG00280.hp1 HG01074.hp1 HG01074.hp2 HG01192.hp2 HG01243.hp1 others(102): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABCC4 | rs9590228-T | - | MODIFIER | chr13 | C | T | |
|
chr13:95247462
|
c.185+181G>T | Platelet count0.0553053 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
A cross-population atlas of genetic associations f others(24): Show |
148,623 East Asian ancestry individuals/ | ABCC4 | rs4148435-A | - | MODIFIER | chr13 | C | A | |
|
chr13:95243412
|
c.306+3563G>A |
platelet count (mean, inv-norm transformed) others(10): Show |
a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
55,759 Hispanic or Latin American individuals/ | ABCC4 | rs4148450-C | - | MODIFIER | chr13 | C | T | |
|
chr13:95257407
|
c.75-9654G>A | Calcium levels0.0135 | a0001a0002a0003a0004a0005others(10): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0008a0001c0001t0020others(66): Show | a0001c0001t0001g0064a0001c0001t0001g0103a0001c0001t0001g0126a0001c0001t0001g0154a0001c0001t0001g0163others(115): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(115): Show |
A cross-population atlas of genetic associations f others(24): Show |
315,153 European ancestry individuals, 83,980 East others(28): Show |
ABCC4 | rs9524868-T | - | MODIFIER | chr13 | C | T | |
|
chr13:95247462
|
c.185+181G>T | Platelet count0.0592 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
A cross-population atlas of genetic associations f others(24): Show |
350,474 European ancestry individuals, 148,623 Eas others(29): Show |
ABCC4 | rs4148435-A | - | MODIFIER | chr13 | C | A | |
|
chr13:95245105
|
c.306+1870G>A | Plateletcrit0.08975439 | a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(101): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(198): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ABCC4 | ABCC4 | rs4148445-T | - | MODIFIER | chr13 | C | T |
|
chr13:95247353
|
c.186-258T>C | Plateletcrit0.031054402 | a0001a0002a0003a0004a0011others(2): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0011others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0002t0001a0001c0002t0002others(43): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0103a0001c0001t0001g0144a0001c0001t0001g0163others(70): Show | HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ABCC4 | ABCC4 | rs4148436-G | - | MODIFIER | chr13 | A | G |
|
chr13:95244245
|
c.306+2730T>C | Platelet count0.08573775 | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ABCC4 | ABCC4 | rs7324464-G | - | MODIFIER | chr13 | A | G |
|
chr13:95247353
|
c.186-258T>C | Platelet count0.026695017 | a0001a0002a0003a0004a0011others(2): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0011others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0002t0001a0001c0002t0002others(43): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0103a0001c0001t0001g0144a0001c0001t0001g0163others(70): Show | HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ABCC4 | ABCC4 | rs4148436-G | - | MODIFIER | chr13 | A | G |
|
chr13:95244245
|
c.306+2730T>C | platelet count (minimum, inv-norm transformed)others(13): Show | a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,799 African American or Afro-Caribbean individ others(130): Show |
ABCC4 | rs7324464-A | - | MODIFIER | chr13 | A | G | |
|
chr13:95243412
|
c.306+3563G>A |
platelet count (mean, inv-norm transformed) others(10): Show |
a0001a0002a0003a0004a0005others(8): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(102): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(199): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,731 African American or Afro-Caribbean individ others(130): Show |
ABCC4 | rs4148450-C | - | MODIFIER | chr13 | C | T | |
|
chr13:95245105
|
c.306+1870G>A |
Platelet count (UKB data field 30080)0.0 others(8): Show |
a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0009others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0006a0001c0001t0008others(101): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(198): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ABCC4 | rs4148445-T | - | MODIFIER | chr13 | C | T | |
|
chr13:95228366
|
c.531+6244T>A |
Platelet crit (UKB data field 30090)0.01 others(7): Show |
a0001a0003a0004a0007a0010others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008a0001c0002t0002a0001c0003t0001others(24): Show | a0001c0001t0001g0126a0001c0001t0001g0171a0001c0001t0001g0173a0001c0001t0001g0187a0001c0001t0001g0198others(57): Show | HG00140.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 others(57): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ABCC4 | rs9524848-T | - | MODIFIER | chr13 | A | T |