| geneid | 9429 |
|---|---|
| ensemblid | ENSG00000118777.12 |
| hgncid | 74 |
| symbol | ABCG2 |
| name | ATP binding cassette subfamily G member 2 (Junior blood group) |
| refseq_nuc | NM_004827.3 |
| refseq_prot | NP_004818.2 |
| ensembl_nuc | ENST00000237612.8 |
| ensembl_prot | ENSP00000237612.3 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 88090269 |
| end | 88158639 |
| strand | - |
| ver | v1.2 |
| region | chr4:88090269-88158639 |
| region5000 | chr4:88085269-88163639 |
| regionname0 | ABCG2_chr4_88090269_88158639 |
| regionname5000 | ABCG2_chr4_88085269_88163639 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:88139962
|
C | T | 0.2029 | missense_variant | MODERATE | HG00423.hp2 HG00597.hp2 HG01071.hp2 others(68): Show |
a0002a0006 | a0002c0002a0002c0004a0006c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0035others(66): Show | 71 | 350 | 0 | ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2/16 | c.34G>A | p.Val12Met | 307/4206 | 34/1968 | 12/655 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCG2 | 0/0 | a0002 | 655 | 70 | 6 | 19 | 36 | 3 | 6 | subcellular location copy fasta | chr4 | 88085269 | 88163639 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCG2 | 0/0 | c0002 | 1968 | 61 | 6 | 12 | 34 | 3 | 6 | copy fasta | chr4 | 88085269 | 88163639 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCG2 | 0/0 | a0002c0002 | 61 | 6 | 12 | 34 | 3 | 6 | 1968 | copy fasta | chr4 | 88085269 | 88163639 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 88158386 | - | 1 | -0.4674 | -0.4448 | -0.4302 | 0.0372 | acceptor | a0002c0002 | NA18982.hp2 | NA18965.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88139793 | - | 2 | -0.9728 | -0.9679 | -0.9630 | 0.0098 | acceptor | a0002c0002 | HG02451.hp1 | HG03471.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88140014 | - | 2 | 0.9943 | 0.9934 | 0.9928 | 0.0015 | donor | a0002c0002 | HG00597.hp2 | HG03041.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88132576 | - | 3 | -0.9673 | -0.9672 | -0.9348 | 0.0325 | acceptor | a0002c0002 | NA20805.hp2 | HG02132.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88132635 | - | 3 | 0.9962 | 0.9961 | 0.9937 | 0.0025 | donor | a0002c0002 | HG02083.hp1 | HG02132.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88131803 | - | 4 | -0.9966 | -0.9966 | -0.9960 | 0.0006 | acceptor | a0002c0002 | NA19085.hp1 | HG02132.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88131917 | - | 4 | 0.9907 | 0.9907 | 0.9889 | 0.0018 | donor | a0002c0002 | HG02027.hp1 HG02083.hp1 |
HG02132.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88131061 | - | 5 | -0.9840 | -0.9831 | -0.9821 | 0.0019 | acceptor | a0002c0002 | HG03471.hp2 | NA20805.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88131213 | - | 5 | 0.9882 | 0.9880 | 0.9860 | 0.0022 | donor | a0002c0002 | NA20805.hp2 | HG01109.hp1 HG01928.hp1 HG01981.hp2 HG02015.hp1 HG02080.hp1 others(13): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88121635 | - | 6 | -0.9333 | -0.9292 | -0.9255 | 0.0078 | acceptor | a0002c0002 | NA19085.hp1 | HG02602.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88121792 | - | 6 | 0.9557 | 0.9521 | 0.9424 | 0.0133 | donor | a0002c0002 | NA18747.hp1 | NA19085.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88118109 | - | 7 | -0.9748 | -0.9717 | -0.9651 | 0.0097 | acceptor | a0002c0002 | HG03927.hp1 | NA18747.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88118260 | - | 7 | 0.9597 | 0.9520 | 0.9405 | 0.0192 | donor | a0002c0002 | HG02015.hp1 HG02080.hp1 |
HG02559.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88114957 | - | 8 | -0.9966 | -0.9950 | -0.9935 | 0.0032 | acceptor | a0002c0002 | HG03471.hp2 | HG02965.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88115058 | - | 8 | 0.9911 | 0.9894 | 0.9871 | 0.0041 | donor | a0002c0002 | HG02015.hp1 HG02080.hp1 |
HG01257.hp2 HG01258.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88113303 | - | 9 | -0.9622 | -0.9614 | -0.9551 | 0.0071 | acceptor | a0002c0002 | NA19085.hp1 | HG03471.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88113553 | - | 9 | 0.9196 | 0.9162 | 0.9130 | 0.0066 | donor | a0002c0002 | NA19085.hp1 | HG01516.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88107184 | - | 10 | -0.9874 | -0.9872 | -0.9805 | 0.0069 | acceptor | a0002c0002 | NA18983.hp1 NA19090.hp1 |
HG02965.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88107266 | - | 10 | 0.9681 | 0.9663 | 0.9552 | 0.0128 | donor | a0002c0002 | HG02451.hp1 HG03041.hp2 |
HG02965.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88101230 | - | 11 | -0.9861 | -0.9493 | -0.9438 | 0.0422 | acceptor | a0002c0002 | HG03471.hp2 | NA18942.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88101319 | - | 11 | 0.9827 | 0.9314 | 0.9170 | 0.0657 | donor | a0002c0002 | HG03471.hp2 | HG01257.hp2 HG01258.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88099324 | - | 12 | -0.9275 | -0.9050 | -0.8594 | 0.0681 | acceptor | a0002c0002 | HG02451.hp1 HG03041.hp2 |
HG01257.hp2 HG01258.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88099448 | - | 12 | 0.9353 | 0.9077 | 0.8633 | 0.0720 | donor | a0002c0002 | NA18941.hp2 | HG02523.hp2 NA19085.hp1 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88097453 | - | 13 | -0.8880 | -0.8696 | -0.8520 | 0.0360 | acceptor | a0002c0002 | NA20805.hp2 | HG03471.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88097607 | - | 13 | 0.9357 | 0.9213 | 0.9008 | 0.0349 | donor | a0002c0002 | HG02148.hp2 HG03017.hp1 |
NA18945.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88095520 | - | 14 | -0.9922 | -0.9918 | -0.9915 | 0.0007 | acceptor | a0002c0002 | HG03471.hp2 | HG01109.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88095609 | - | 14 | 0.9969 | 0.9969 | 0.9964 | 0.0005 | donor | a0002c0002 | HG00597.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02135.hp2 others(5): Show |
HG03471.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88094577 | - | 15 | -0.9941 | -0.9937 | -0.9936 | 0.0006 | acceptor | a0002c0002 | HG01257.hp2 HG01258.hp2 |
HG02080.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88094659 | - | 15 | 0.9975 | 0.9974 | 0.9970 | 0.0004 | donor | a0002c0002 | HG01109.hp1 HG01928.hp1 HG01981.hp2 HG02132.hp2 HG02148.hp2 others(7): Show |
HG02451.hp1 HG02723.hp2 HG03041.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88092381 | - | 16 | 0.8755 | 0.8731 | 0.8575 | 0.0180 | donor | a0002c0002 | HG02523.hp2 NA18942.hp1 NA18945.hp2 NA19085.hp1 NA20805.hp1 |
HG02451.hp1 HG02723.hp2 HG03041.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:88124179
|
c.532-2387T>C | Urate levels1.86 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Multiple genetic loci influence serum urate levels others(74): Show |
28,283 European ancestry individuals/22,054 Europe others(23): Show |
ABCG2 | ABCG2 | rs2199936-A | - | MODIFIER | chr4 | A | G |
|
chr4:88124179
|
c.532-2387T>C | Urate levels18.08 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Multiple genetic loci influence serum urate levels others(74): Show |
28,283 European ancestry individuals/22,054 Europe others(23): Show |
ABCG2 | ABCG2 | rs2199936-A | - | MODIFIER | chr4 | A | G |
|
chr4:88124179
|
c.532-2387T>C | Cardiovascular disease risk factors0.188 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C others(70): Show |
11,683 European ancestry individuals/ | ABCG2 | ABCG2 | rs2199936-A | - | MODIFIER | chr4 | A | G |
|
chr4:88124179
|
c.532-2387T>C | Lipoprotein-associated phospholipase A2 activity change in response to statin therapyothers(46): Show | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Genome-wide association study evaluating lipoprote others(92): Show |
2,673 European ancestry cases, 2,656 European ance others(14): Show |
ABCG2 | ABCG2 | rs2199936-A | - | MODIFIER | chr4 | A | G |
|
chr4:88115201
|
c.842-143G>A | Glomerular filtration rate0.02265 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0002c0002a0003c0003a0004c0006a0005c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0009others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0053a0001c0001t0001g0058a0001c0001t0001g0077others(123): Show | HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 others(126): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
143,658 Japanese ancestry individuals/ | ABCG2 | ABCG2 | rs2725261-? | - | MODIFIER | chr4 | C | T |
|
chr4:88124179
|
c.532-2387T>C | Urate levels in lean individuals0.323 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Modulation of genetic associations with serum urat others(38): Show |
up to 5,529 European ancestry male individuals, up others(47): Show |
ABCG2 | ABCG2 | rs2199936-G | - | MODIFIER | chr4 | A | G |
|
chr4:88124179
|
c.532-2387T>C |
Urate levels in overweight individuals0. others(3): Show |
a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Modulation of genetic associations with serum urat others(38): Show |
up to 10,058 European ancestry male individuals, u others(48): Show |
ABCG2 | ABCG2 | rs2199936-G | - | MODIFIER | chr4 | A | G |
|
chr4:88139757
|
c.203+36A>G | Serum uric acid levels0.029 | a0002a0006 | a0002c0002a0002c0004a0006c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0004a0002c0002t0011a0002c0002t0012others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0035a0002c0002t0001g0037a0002c0002t0001g0041others(63): Show | HG00423.hp2 HG00597.hp2 HG01071.hp2 HG01109.hp1 HG01169.hp1 others(65): Show |
A genome-wide association study identifies common others(76): Show |
3,451 Han Chinese ancestry individuals/8,830 Chine others(23): Show |
ABCG2 | ABCG2 | rs4148152-C | - | MODIFIER | chr4 | T | C |
|
chr4:88143429
|
c.-19-3415T>G | Serum uric acid levels0.029 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0002c0002a0002c0004a0003c0003a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0007others(16): Show | a0001c0001t0001g0049a0001c0001t0001g0062a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0094others(175): Show | HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 others(178): Show |
A genome-wide association study identifies common others(76): Show |
3,451 Han Chinese ancestry individuals/8,830 Chine others(23): Show |
ABCG2 | ABCG2 | rs3114018-T | - | MODIFIER | chr4 | A | C |
|
chr4:88143429
|
c.-19-3415T>G | Dental caries | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0002c0002a0002c0004a0003c0003a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0007others(16): Show | a0001c0001t0001g0049a0001c0001t0001g0062a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0094others(175): Show | HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 others(178): Show |
GWAS of dental caries patterns in the permanent de others(8): Show |
920 European ancestry individuals/ | PKD2, SPP1, MEPE, IBSP, DMP1, DSPP, ABCG2 | ABCG2 | rs3114018-? | - | MODIFIER | chr4 | A | C |
|
chr4:88124179
|
c.532-2387T>C | Serum uric acid levels in response to allopurinol in goutothers(22): Show | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Genome-wide association study identifies ABCG2 (BC others(69): Show |
1,607 European ancestry individuals, 238 East Asia others(88): Show |
PKD2, ABCG2 | ABCG2 | rs75544042-? | - | MODIFIER | chr4 | A | G |
|
chr4:88107623
|
c.1195-357T>C | Hyperuricemia1.883 | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0002c0002t0001a0003c0003t0001a0003c0003t0003a0003c0003t0004others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0002c0002t0001g0002a0003c0003t0001g0004others(51): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(54): Show |
ABCG2 Polymorphism Is Associated with Hyperuricemi others(48): Show |
234 Korean ancestry cases, 3,413 Korean ancestry c others(8): Show |
ABCG2 | ABCG2 | rs2054576-G | - | MODIFIER | chr4 | A | G |
|
chr4:88124179
|
c.532-2387T>C | Coffee consumption0.069 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
GWAS of 165,084 Japanese individuals identified ni others(39): Show |
152,634 Japanese ancestry individuals/ | ABCG2 | ABCG2 | rs75544042-? | - | MODIFIER | chr4 | A | G |
|
chr4:88143429
|
c.-19-3415T>G | Uric acid levels0.1648 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0002c0002a0002c0004a0003c0003a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0007others(16): Show | a0001c0001t0001g0049a0001c0001t0001g0062a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0094others(175): Show | HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 others(178): Show |
Genome-wide association analysis identifies multip others(76): Show |
7,064 Korean ancestry individuals/3,703 Korean anc others(17): Show |
ABCG2 | ABCG2 | rs3114018-? | - | MODIFIER | chr4 | A | C |
|
chr4:88114355
|
c.943+602C>T | Dementia0.0258677 | a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001a0002c0002t0002a0002c0002t0012others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0062a0001c0001t0001g0071a0001c0001t0001g0080a0001c0001t0001g0082others(69): Show | HG00099.hp1 HG00099.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp2 others(71): Show |
A genome-wide association meta-analysis of all-cau others(25): Show |
2,263 African ancestry cases, 7,315 African ancest others(182): Show |
ABCG2 | rs72659642-G | - | MODIFIER | chr4 | G | A | |
|
chr4:88099782
|
c.1368-334C>T | Glycated hemoglobin levels0.0275 | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0001c0001t0010a0002c0002t0001a0003c0003t0001a0003c0003t0003others(2): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0001c0001t0010g0078a0002c0002t0001g0002others(52): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(55): 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 | ABCG2 | rs4148157-A | - | MODIFIER | chr4 | G | A |
|
chr4:88124179
|
c.532-2387T>C | Coffee consumption0.0153 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
A genome-wide association study of bitter and swee others(23): Show |
335,909 European ancestry individuals/39,924 Europ others(24): Show |
ABCG2 | ABCG2 | rs2199936-G | - | MODIFIER | chr4 | A | G |
|
chr4:88124179
|
c.532-2387T>C | Serum uric acid levels0.1145 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Genome-wide meta-analysis identifies multiple nove others(70): Show |
121,745 Japanese ancestry individuals, at least 88 others(35): Show |
ABCG2 | ABCG2 | rs2199936-A | - | MODIFIER | chr4 | A | G |
|
chr4:88124179
|
c.532-2387T>C | Serum uric acid levels0.16428572 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Genome-wide meta-analysis identifies multiple nove others(70): Show |
121,745 Japanese ancestry individuals, at least 88 others(35): Show |
ABCG2 | ABCG2 | rs2199936-A | - | MODIFIER | chr4 | A | G |
|
chr4:88107623
|
c.1195-357T>C | Urate levels0.1531 | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0002c0002t0001a0003c0003t0001a0003c0003t0003a0003c0003t0004others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0002c0002t0001g0002a0003c0003t0001g0004others(51): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(54): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals, 125,725 Eas others(132): Show |
ABCG2 | ABCG2 | rs2054576-A | - | MODIFIER | chr4 | A | G |
|
chr4:88162514
|
c.-4148A>G | Gout1.89 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0002c0002a0002c0004a0003c0003a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0008a0001c0001t0009others(13): Show | a0001c0001t0001g0021a0001c0001t0001g0172a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0175others(160): Show | HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 others(163): Show |
GWAS of clinically defined gout and subtypes ident others(72): Show |
945 Japanese ancestry cases, 1,213 Japanese ancest others(203): Show |
ABCG2 | ABCG2 | rs3114020-C | - | MODIFIER | chr4 | T | C |
|
chr4:88118477
|
c.690-217A>G | Renal underexcretion gout1.81 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0014a0002c0002t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0053others(73): Show | HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00597.hp2 HG01123.hp2 others(75): Show |
GWAS of clinically defined gout and subtypes ident others(72): Show |
619 Japanese ancestry cases, 1,213 Japanese ancest others(73): Show |
ABCG2 | ABCG2 | rs1871744-T | - | MODIFIER | chr4 | T | C |
|
chr4:88157772
|
c.-20+614A>G | LDL peak particle diameter (total fat intake interaction)others(21): Show | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0058a0001c0001t0001g0062a0001c0001t0001g0071a0001c0001t0001g0072others(291): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 others(296): Show |
Interaction between Common Genetic Variants and To others(98): Show |
541 European ancestry individuals/ | ABCG2 | ABCG2 | rs2622604-T | - | MODIFIER | chr4 | T | C |
|
chr4:88098463
|
c.1493-856G>A | Urate levels0.0354 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(15): Show | HG00323.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 others(15): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,087 European ancestry individuals, 6,011 Afric others(64): Show |
NR | ABCG2 | rs45592144-T | - | MODIFIER | chr4 | C | T |
|
chr4:88099782
|
c.1368-334C>T | Urate levels0.167 | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0001c0001t0010a0002c0002t0001a0003c0003t0001a0003c0003t0003others(2): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0001c0001t0010g0078a0002c0002t0001g0002others(52): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(55): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,087 European ancestry individuals, 6,011 Afric others(64): Show |
NR | ABCG2 | rs4148157-A | - | MODIFIER | chr4 | G | A |
|
chr4:88118348
|
c.690-88A>G | Urate levels0.0623 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002a0002c0002t0011 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028a0002c0002t0001g0008a0002c0002t0001g0035others(31): Show | HG00423.hp2 HG00597.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 others(32): Show |
Urate, Blood Pressure, and Cardiovascular Disease: others(76): Show |
454,183 European ancestry individuals/ | NR | ABCG2 | rs2231146-T | - | MODIFIER | chr4 | T | C |
|
chr4:88124179
|
c.532-2387T>C | Basal ganglia structure | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
The genetic landscape of basal ganglia and implica others(33): Show |
34,794 British ancestry individuals/ | ABCG2 | rs2199936-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88107623
|
c.1195-357T>C | Adenosine 3',5'-cyclic monophosphate (camp) levelsothers(18): Show | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0002c0002t0001a0003c0003t0001a0003c0003t0003a0003c0003t0004others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0002c0002t0001g0002a0003c0003t0001g0004others(51): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(54): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
6,756 European ancestry individuals/ | ABCG2 | rs2054576-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88124179
|
c.532-2387T>C | Body mass index | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Shared Genetic and Experimental Links between Obes others(53): Show |
457,822 European ancestry individuals/ | NR | ABCG2 | rs2199936-? | - | MODIFIER | chr4 | A | G |
|
chr4:88139962
|
c.34G>Ap.Val12Met | Serum metabolite levels0.244 | a0002a0006 | a0002c0002a0002c0004a0006c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0004a0002c0002t0011a0002c0002t0012others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0035a0002c0002t0001g0037a0002c0002t0001g0041others(64): Show | HG00423.hp2 HG00597.hp2 HG01071.hp2 HG01109.hp1 HG01169.hp1 others(66): Show |
A Genome-wide Association Study Discovers 46 Loci others(80): Show |
3,926 Hispanic/Latino individuals/ | ABCG2 | ABCG2 | rs2231137-C | - | MODERATE | chr4 | C | T |
|
chr4:88124179
|
c.532-2387T>C | 4-hydroxychlorothalonil levels | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
Metabolome-wide association identifies ferredoxin- others(97): Show |
1,876 East Asian ancestry, South Asian ancestry, S others(37): Show |
ABCG2 | rs2199936-? | - | MODIFIER | chr4 | A | G | |
|
chr4:88107623
|
c.1195-357T>C | 4-hydroxychlorothalonil levels0.483 | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0002c0002t0001a0003c0003t0001a0003c0003t0003a0003c0003t0004others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0002c0002t0001g0002a0003c0003t0001g0004others(51): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(54): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ABCG2 | rs2054576-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88109689
|
c.1195-2423A>C | 4-hydroxychlorothalonil levels0.238 | a0001a0002 | a0001c0001a0001c0005a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0010a0001c0005t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(83): Show | HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00738.hp1 others(85): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ABCG2 | rs12505410-G | - | MODIFIER | chr4 | T | G | |
|
chr4:88148375
|
c.-19-8361A>T | 4-hydroxychlorothalonil levels0.242 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0002c0002a0002c0004a0003c0003a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0007others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0082a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136others(176): Show | HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 others(179): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ABCG2 | rs2725242-T | - | MODIFIER | chr4 | T | A | |
|
chr4:88099275
|
c.1492+49G>T | Cigarettes smoked per day0.0216 | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0001c0001t0010a0002c0002t0001a0003c0003t0001a0003c0003t0003others(2): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0001c0001t0010g0078a0002c0002t0001g0002others(52): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(55): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
618,489 European ancestry individuals/ | ABCG2 | rs2231156-A | - | MODIFIER | chr4 | C | A | |
|
chr4:88099275
|
c.1492+49G>T | Cigarettes smoked per day0.0145 | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0001c0001t0010a0002c0002t0001a0003c0003t0001a0003c0003t0003others(2): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0001c0001t0010g0078a0002c0002t0001g0002others(52): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(55): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
783,784 European ancestry, East Asian ancestry, Hi others(55): Show |
ABCG2 | rs2231156-A | - | MODIFIER | chr4 | C | A | |
|
chr4:88099782
|
c.1368-334C>T | Cigarettes smoked per day0.0144 | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0001c0001t0010a0002c0002t0001a0003c0003t0001a0003c0003t0003others(2): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0001c0001t0010g0078a0002c0002t0001g0002others(52): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(55): Show |
Genetic diversity fuels gene discovery for tobacco others(17): Show |
783,784 European ancestry, East Asian ancestry, Hi others(55): Show |
ABCG2 | rs4148157-A | - | MODIFIER | chr4 | G | A | |
|
chr4:88124179
|
c.532-2387T>C | Body mass index0.0149 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
A cross-population atlas of genetic associations f others(24): Show |
359,983 European ancestry individuals, 163,835 Eas others(29): Show |
ABCG2 | rs2199936-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88124179
|
c.532-2387T>C | C-reactive protein0.0191 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
A cross-population atlas of genetic associations f others(24): Show |
353,466 European ancestry individuals, 83,025 East others(28): Show |
ABCG2 | rs2199936-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88107623
|
c.1195-357T>C | Uric acid levels | a0001a0002a0003a0006 | a0001c0001a0002c0002a0003c0003a0006c0008 | a0001c0001t0001a0002c0002t0001a0003c0003t0001a0003c0003t0003a0003c0003t0004others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0166a0002c0002t0001g0002a0003c0003t0001g0004others(51): Show | HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 others(54): Show |
Analysis across Taiwan Biobank, Biobank Japan, and others(73): Show |
92,615 Taiwanese ancestry individuals/ | ABCG2 | rs2054576-? | - | MODIFIER | chr4 | A | G | |
|
chr4:88124179
|
c.532-2387T>C | IDP T1 FIRST left pallidum volume0.089 | a0001a0002a0004a0005a0008others(2): Show | a0001c0001a0001c0005a0002c0002a0002c0004a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(274): Show | HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(278): Show |
An expanded set of genome-wide association studies others(43): Show |
22,128 British ancestry individuals/11,083 British others(21): Show |
ABCG2 | rs2199936-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88139757
|
c.203+36A>G |
Urate levels (UKB data field 30880)0.059 others(6): Show |
a0002a0006 | a0002c0002a0002c0004a0006c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0004a0002c0002t0011a0002c0002t0012others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0035a0002c0002t0001g0037a0002c0002t0001g0041others(63): Show | HG00423.hp2 HG00597.hp2 HG01071.hp2 HG01109.hp1 HG01169.hp1 others(65): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ABCG2 | rs4148152-C | - | MODIFIER | chr4 | T | C |