| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:88131171
|
G | T | 0.1743 | missense_variant | MODERATE | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(58): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(1): Show | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178others(56): Show | 61 | 350 | 0 | ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/16 | c.421C>A | p.Gln141Lys | 694/4206 | 421/1968 | 141/655 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:88091870
|
T | TA | 0.0286 | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG02071.hp1 NA18939.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0006a0003c0003t0003g0183a0003c0003t0003g0250others(6): Show | 10 | 350 | 1 | ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 16/16 | c.*363_*364insT | 363 |
| 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 | a0003 | 655 | 60 | 2 | 9 | 42 | 1 | 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 | c0003 | 1968 | 60 | 2 | 9 | 42 | 1 | 6 | copy fasta | chr4 | 88085269 | 88163639 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCG2 | 0/0 | t0003 | 2240 | 10 | 0 | 0 | 10 | 0 | 0 | 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 | a0003c0003 | 60 | 2 | 9 | 42 | 1 | 6 | 1968 | 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCG2 | 0/0 | a0003c0003t0003 | 10 | 0 | 0 | 10 | 0 | 0 | 4207 | 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 | -0.4550 | -0.4550 | -0.4528 | 0.0022 | acceptor | a0003c0003t0003 | HG00609.hp2 NA18939.hp2 NA18955.hp1 NA18983.hp2 NA18995.hp1 others(2): Show |
NA18942.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88139793 | - | 2 | -0.9743 | -0.9711 | -0.9711 | 0.0032 | acceptor | a0003c0003t0003 | NA19088.hp1 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(4): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88140014 | - | 2 | 0.9939 | 0.9935 | 0.9935 | 0.0004 | donor | a0003c0003t0003 | NA19088.hp1 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(4): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88132576 | - | 3 | -0.9712 | -0.9712 | -0.9712 | 0.0000 | acceptor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88132635 | - | 3 | 0.9965 | 0.9965 | 0.9965 | 0.0000 | donor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88131803 | - | 4 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88131917 | - | 4 | 0.9919 | 0.9919 | 0.9919 | 0.0000 | donor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88131061 | - | 5 | -0.9857 | -0.9857 | -0.9857 | 0.0000 | acceptor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88131213 | - | 5 | 0.9885 | 0.9885 | 0.9885 | 0.0000 | donor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88121635 | - | 6 | -0.9267 | -0.9266 | -0.9266 | 0.0000 | acceptor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(3): Show |
NA18961.hp2 NA18995.hp1 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88121792 | - | 6 | 0.9420 | 0.9420 | 0.9419 | 0.0001 | donor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(3): Show |
NA18961.hp2 NA18995.hp1 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88118109 | - | 7 | -0.9730 | -0.9724 | -0.9645 | 0.0084 | acceptor | a0003c0003t0003 | NA19070.hp1 | HG00609.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88118260 | - | 7 | 0.9502 | 0.9402 | 0.9376 | 0.0126 | donor | a0003c0003t0003 | NA19088.hp1 | NA18955.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88114957 | - | 8 | -0.9960 | -0.9958 | -0.9943 | 0.0017 | acceptor | a0003c0003t0003 | NA18942.hp2 NA18983.hp2 |
HG00609.hp2 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88115058 | - | 8 | 0.9902 | 0.9877 | 0.9864 | 0.0038 | donor | a0003c0003t0003 | NA19088.hp1 | NA18955.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88113303 | - | 9 | -0.9612 | -0.9611 | -0.9609 | 0.0004 | acceptor | a0003c0003t0003 | NA19088.hp1 | NA18942.hp2 NA18983.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88113553 | - | 9 | 0.9205 | 0.9188 | 0.9183 | 0.0022 | donor | a0003c0003t0003 | NA19088.hp1 | NA18955.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88107184 | - | 10 | -0.9836 | -0.9836 | -0.9836 | 0.0000 | acceptor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88107266 | - | 10 | 0.9593 | 0.9593 | 0.9593 | 0.0000 | donor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18955.hp1 others(5): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88101230 | - | 11 | -0.9520 | -0.9520 | -0.9518 | 0.0002 | acceptor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18942.hp2 NA18955.hp1 NA18983.hp2 others(3): Show |
NA18939.hp2 NA18961.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88101319 | - | 11 | 0.9185 | 0.9170 | 0.9170 | 0.0015 | donor | a0003c0003t0003 | NA18939.hp2 NA18961.hp2 |
HG00609.hp2 HG02071.hp1 NA18942.hp2 NA18955.hp1 NA18983.hp2 others(3): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88099324 | - | 12 | -0.8607 | -0.8594 | -0.8424 | 0.0183 | acceptor | a0003c0003t0003 | NA18955.hp1 | NA18939.hp2 NA18961.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88099448 | - | 12 | 0.9159 | 0.9159 | 0.8827 | 0.0332 | donor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18942.hp2 NA18983.hp2 NA18995.hp1 others(2): Show |
NA18939.hp2 NA18961.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88097453 | - | 13 | -0.8801 | -0.8696 | -0.8657 | 0.0144 | acceptor | a0003c0003t0003 | NA18939.hp2 NA18961.hp2 |
NA18955.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88097607 | - | 13 | 0.9289 | 0.9242 | 0.9240 | 0.0049 | donor | a0003c0003t0003 | NA18955.hp1 | NA18939.hp2 NA18961.hp2 |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88095520 | - | 14 | -0.9918 | -0.9915 | -0.9915 | 0.0003 | acceptor | a0003c0003t0003 | NA18955.hp1 | HG00609.hp2 HG02071.hp1 NA18942.hp2 NA18983.hp2 NA18995.hp1 others(2): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88095609 | - | 14 | 0.9968 | 0.9967 | 0.9965 | 0.0002 | donor | a0003c0003t0003 | NA18939.hp2 NA18961.hp2 |
NA18955.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88094577 | - | 15 | -0.9942 | -0.9941 | -0.9941 | 0.0001 | acceptor | a0003c0003t0003 | NA18955.hp1 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18961.hp2 others(4): Show |
ABCG2 | chr4 | 88085269 | 88163639 |
| 88094659 | - | 15 | 0.9971 | 0.9970 | 0.9969 | 0.0001 | donor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18939.hp2 NA18942.hp2 NA18961.hp2 others(4): Show |
NA18955.hp1 | ABCG2 | chr4 | 88085269 | 88163639 |
| 88092381 | - | 16 | 0.8981 | 0.8981 | 0.8972 | 0.0009 | donor | a0003c0003t0003 | HG00609.hp2 HG02071.hp1 NA18942.hp2 NA18955.hp1 NA18983.hp2 others(3): Show |
NA18939.hp2 NA18961.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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Urate levels0.24 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Association of three genetic loci with uric acid c others(63): Show |
11,847 European ancestry individuals/11,024 Europe others(59): Show |
ABCG2 | ABCG2 | rs2231142-? | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Uric acid levels27.4 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome-wide association of serum uric acid concent others(98): Show |
1,300 European ancestry individuals/ | ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Urate levels0.217 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome-wide association analyses identify 18 new l others(47): Show |
49,825 European ancestry males, 60,522 European an others(57): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88117930
|
c.841+179T>C | Gout0.5484 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome-wide association analyses identify 18 new l others(47): Show |
2,115 European ancestry cases, 67,259 European anc others(44): Show |
ABCG2 | ABCG2 | rs1481012-A | - | MODIFIER | chr4 | A | G |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Uric acid levels0.14 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Meta-analysis of 28,141 individuals identifies com others(74): Show |
12,328 European ancestry males, 15,813 European an others(15): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Uric acid levels0.22 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Meta-analysis of 28,141 individuals identifies com others(74): Show |
12,328 European ancestry males, 15,813 European an others(15): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88133515
|
c.204-880T>C | Urate levels0.121 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genome-wide association study of hematological and others(45): Show |
8,868 Japanese ancestry individuals/ | ABCG2 | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G |
|
chr4:88133515
|
c.204-880T>C | Serum uric acid levels0.1136 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
109,029 Japanese ancestry individuals/ | ABCG2 | ABCG2 | rs4148155-? | - | 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 |
|
chr4:88117930
|
c.841+179T>C | Body mass index0.0188 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Meta-analysis of genome-wide association studies f others(69): Show |
806,834 European ancestry individuals/ | ABCG2 | rs1481012-A | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Body mass index | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
ABCG2 | rs4148155-? | - | MODIFIER | chr4 | A | G | |
|
chr4:88117930
|
c.841+179T>C |
Response to statins (LDL cholesterol change)< others(7): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetic determinants of statin-induced low-density others(154): Show |
6,989 European ancestry individuals/ | ABCG2 | ABCG2 | rs1481012-? | - | MODIFIER | chr4 | A | G |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Urate levels in lean individuals0.223 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): 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 | rs2231142-G | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Urate levels in lean individuals0.173 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): 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 | rs2231142-G | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys |
Urate levels in overweight individuals0. others(3): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): 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 | rs2231142-G | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys |
Urate levels in overweight individuals0. others(2): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): 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 | rs2231142-G | - | MODERATE | chr4 | G | T |
|
chr4:88117930
|
c.841+179T>C | Urate levels in obese individuals0.136 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Modulation of genetic associations with serum urat others(38): Show |
4,613 European ancestry male individuals, 4,690 Eu others(70): Show |
ABCG2 | ABCG2 | rs1481012-G | - | MODIFIER | chr4 | A | G |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Urate levels in obese individuals0.135 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Modulation of genetic associations with serum urat others(38): Show |
4,613 European ancestry male individuals, 4,690 Eu others(70): Show |
ABCG2 | ABCG2 | rs2231142-G | - | MODERATE | chr4 | G | T |
|
chr4:88117930
|
c.841+179T>C | Coffee consumption (cups per day)0.06 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome-wide meta-analysis identifies six novel loc others(46): Show |
91,462 European ancestry individuals/30,062 Europe others(59): Show |
ABCG2, PKD2, PPM1K | ABCG2 | rs1481012-A | - | MODIFIER | chr4 | A | G |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Serum uric acid levels15.75 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome wide association study of uric acid in Indi others(74): Show |
1,109 Indo-European ancestry individuals/3,725 Ind others(31): Show |
ABCG2 | ABCG2 | rs2231142-A | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout1.82 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome-wide association analysis identifies three others(48): Show |
1,255 Han Chinese ancestry male cases, 1,848 Han C others(109): Show |
NR | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout4.34 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
ABCG2 contributes to the development of gout and h others(48): Show |
747 East Asian ancestry cases, 2,071 East Asian an others(16): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout vs. Hyperuricemia3.37 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
ABCG2 contributes to the development of gout and h others(48): Show |
747 East Asian ancestry gout cases, 747 East Asian others(30): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Hyperuricemia2.15 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
ABCG2 contributes to the development of gout and h others(48): Show |
747 East Asian ancestry cases, 2,071 East Asian an others(16): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Serum uric acid levels0.045 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): 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 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
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 |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout1.67 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Identification of low-frequency variants associate others(39): Show |
968 European ancestry cases, 40,000 European ances others(13): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Serum uric acid levels0.16 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Identification of low-frequency variants associate others(39): Show |
15,506 European ancestry individuals/ | ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
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 |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Serum uric acid levels in response to allopurinol in goutothers(23): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome-wide association study identifies ABCG2 (BC others(69): Show |
1,607 European ancestry individuals, 238 East Asia others(88): Show |
ABCG2 | ABCG2 | rs2231142-? | - | MODERATE | chr4 | G | T |
|
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 |
|
chr4:88133515
|
c.204-880T>C | Renal overload gout2.79 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Subtype-specific gout susceptibility loci and enri others(132): Show |
486 Japanese ancestry male cases, 4,554 Japanese a others(22): Show |
ABCG2 | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G |
|
chr4:88128874
|
c.531+2187G>T | Gout (combined type)2.46 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Subtype-specific gout susceptibility loci and enri others(132): Show |
905 Japanese ancestry male cases, 4,554 Japanese a others(22): Show |
ABCG2 | ABCG2 | rs74904971-A | - | MODIFIER | chr4 | C | A |
|
chr4:88133515
|
c.204-880T>C | Gout (normal type)2.34 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Subtype-specific gout susceptibility loci and enri others(132): Show |
92 Japanese ancestry male cases, 4,554 Japanese an others(21): Show |
ABCG2 | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G |
|
chr4:88133515
|
c.204-880T>C | Gout2.23 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Subtype-specific gout susceptibility loci and enri others(132): Show |
3,053 Japanese ancestry male cases, 4,554 Japanese others(24): Show |
ABCG2 | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G |
|
chr4:88133515
|
c.204-880T>C | Renal underexcretion gout1.69 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Subtype-specific gout susceptibility loci and enri others(132): Show |
654 Japanese ancestry male cases, 4,554 Japanese a others(22): Show |
ABCG2 | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G |
|
chr4:88117930
|
c.841+179T>C | Kidney stones1.11 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetic variants of calcium and vitamin D metaboli others(27): Show |
6,536 British ancestry cases, 5,587 Japanese ances others(80): Show |
ABCG2 | ABCG2 | rs1481012-G | - | MODIFIER | chr4 | A | G |
|
chr4:88133515
|
c.204-880T>C | C-reactive protein levels0.0221716 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Using Mendelian randomization to evaluate the caus others(93): Show |
418,642 British ancestry individuals/ | NR | ABCG2 | rs4148155-A | - | MODIFIER | chr4 | A | G |
|
chr4:88133515
|
c.204-880T>C | Urate levels0.226 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genomic dissection of 43 serum urate-associated lo others(73): Show |
110,238 European ancestry individuals, 21,471 East others(19): Show |
ABCG2 | ABCG2 | rs4148155-A | - | MODIFIER | chr4 | A | G |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Uric acid levels0.2804 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome-wide association analysis identifies multip others(76): Show |
7,064 Korean ancestry individuals/3,703 Korean anc others(17): Show |
ABCG2, PKD2 | ABCG2 | rs2231142-? | - | MODERATE | chr4 | G | T |
|
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 |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Serum uric acid levels0.23 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Influence of Genetic and Non-Genetic Risk Factors others(57): Show |
396 Mexican ancestry individuals/3,693 Mexican anc others(17): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88128874
|
c.531+2187G>T | Urate levels0.2338 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
174,111 European, East Asian, African American, So others(125): Show |
NR | ABCG2 | rs74904971-A | - | MODIFIER | chr4 | C | A |
|
chr4:88117930
|
c.841+179T>C | Urate levels0.248838 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals/ | ABCG2 | ABCG2 | rs1481012-A | - | MODIFIER | chr4 | A | G |
|
chr4:88128874
|
c.531+2187G>T | C-reactive protein levels0.019 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetic analysis of over half a million people cha others(35): Show |
575,531 European ancestry individuals/ | ABCG2 | rs74904971-A | - | MODIFIER | chr4 | C | 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 |
|
chr4:88117930
|
c.841+179T>C | Tea consumption0.0116 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association study of bitter and swee others(23): Show |
336,898 European ancestry individuals/39,924 Europ others(24): Show |
ABCG2 | ABCG2 | rs1481012-A | - | MODIFIER | chr4 | A | G |
|
chr4:88128874
|
c.531+2187G>T | Urate levels0.1692 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
174,111 European, East Asian, African American, So others(125): Show |
NR | ABCG2 | rs74904971-A | - | MODIFIER | chr4 | C | A |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
13,179 European, African American and unknown ance others(77): Show |
ABCG2 | ABCG2 | rs2231142-? | - | MODERATE | chr4 | G | T |
|
chr4:88133515
|
c.204-880T>C | Serum uric acid levels0.115 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genome-wide meta-analysis identifies multiple nove others(70): Show |
121,745 Japanese ancestry individuals/at least 101 others(34): Show |
ABCG2 | ABCG2 | rs4148155-A | - | MODIFIER | chr4 | A | G |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Urate levels0.3369 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals, 125,725 Eas others(132): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88128874
|
c.531+2187G>T | Urate levels0.2167 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals, 125,725 Eas others(132): Show |
ABCG2 | ABCG2 | rs74904971-A | - | MODIFIER | chr4 | C | A |
|
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 |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Serum urate levels0.2377 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
630,117 European ancestry individuals/ | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout1.7349871 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
100,671 European ancestry cases, 2,106,212 Europea others(20): Show |
ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
chr4:88123028
|
c.532-1236C>G | Gout1.5877216 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
3,053 African American or Afro-Caribbean cases, 77 others(49): Show |
ABCG2 | rs149027545-C | - | MODIFIER | chr4 | G | C | |
|
chr4:88122482
|
c.532-690C>G | Gout1.7426379 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
2,009 African American or Afro-Caribbean cases, 31 others(49): Show |
ABCG2 | rs45499402-C | - | MODIFIER | chr4 | G | C | |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout1.8658189 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
10,729 East Asian ancestry cases, 82,817 East Asia others(20): Show |
ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout2.0035088 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
9,779 East Asian ancestry cases, 38,965 East Asian others(19): Show |
ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout1.3336239 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
23,044 European ancestry cases, 1,172,318 European others(19): Show |
ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout1.8806171 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
77,627 European ancestry cases, 933,894 European a others(17): Show |
ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
chr4:88122482
|
c.532-690C>G | Gout1.7608559 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
5,842 Hispanic or Latin American cases, 236,114 Hi others(34): Show |
ABCG2 | rs45499402-C | - | MODIFIER | chr4 | G | C | |
|
chr4:88122482
|
c.532-690C>G | Gout1.9413818 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
4,272 Hispanic or Latin American cases, 99,735 His others(33): Show |
ABCG2 | rs45499402-C | - | MODIFIER | chr4 | G | C | |
|
chr4:88117930
|
c.841+179T>C | Gout0.7389685 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association analysis reveals new pat others(25): Show |
1,570 Hispanic or Latin American cases, 136,379 Hi others(34): Show |
ABCG2 | rs1481012-A | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Adult body size0.0143494 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Use of genetic variation to separate the effects o others(80): Show |
453,169 European ancestry individuals/ | ABCG2 | ABCG2 | rs4148155-A | - | MODIFIER | chr4 | A | G |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys |
Serum urate levels in chronic kidney disease< others(7): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetics of serum urate concentrations and gout in others(62): Show |
4,941 European ancestry cases/ | ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88133515
|
c.204-880T>C | Gout in chronic kidney disease1.55 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genetics of serum urate concentrations and gout in others(62): Show |
1,217 European ancestry cases, 3,724 European ance others(14): Show |
ABCG2 | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G |
|
chr4:88117930
|
c.841+179T>C | Coffee consumption (cups per day)0.066 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Coffee Consumption and Kidney Function: A Mendelia others(22): Show |
227,666 British ancestry individuals/ | ABCG2 | ABCG2 | rs1481012-G | - | MODIFIER | chr4 | A | G |
|
chr4:88133515
|
c.204-880T>C | Gout2.0 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Integrative Genome-Wide Association Studies of eQT others(48): Show |
373 Han Chinese ancestry cases, 6,721 Han Chinese others(85): Show |
PKD2, NAP1L5, ABCG2 | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G |
|
chr4:88117930
|
c.841+179T>C | Bitter beverage consumption0.0146 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
A genome-wide association study of bitter and swee others(23): Show |
85,852 European ancestry individuals/39,924 Europe others(23): Show |
ABCG2 | ABCG2 | rs1481012-A | - | MODIFIER | chr4 | A | G |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Serum uric acid levels0.23 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetic contributors to serum uric acid levels in others(63): Show |
2153 Mexican ancestry individuals/ | ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
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 |
|
chr4:88157772
|
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 |
|
chr4:88133515
|
c.204-880T>C | Total cerebellar volume (excluding Crus I vermis)others(15): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genetic common variants associated with cerebellar others(99): Show |
33,265 European ancestry individuals/ | ABCG2 | rs4148155-A | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Serum urate levels5.98 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Fine mapping and identification of serum urate loc others(53): Show |
2,000 American Indian individuals/ | ABCG2 | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G |
|
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 |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout2.5 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Variants in urate transporters, ADH1B, GCKR and ME others(188): Show |
7,049 European ancestry cases, 64,424 European anc others(15): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Gout vs asymptomatic hyperuricemia1.65 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Variants in urate transporters, ADH1B, GCKR and ME others(188): Show |
4,934 European ancestry cases, 56,948 European anc others(79): Show |
ABCG2 | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T |
|
chr4:88117930
|
c.841+179T>C | Renal overload gout0.5923249 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genome-wide meta-analysis between renal overload t others(85): Show |
486 renal overload-type gout male cases, 654 renal others(40): Show |
ABCG2 | rs1481012-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Asymptomatic hyperuricaemia (age >=50) | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genetic contributions to female gout and hyperuric others(75): Show |
5,190 East Asian ancestry cases, 19,345 East Asian others(19): Show |
ABCG2 | rs4148155-? | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Asymptomatic hyperuricaemia (age <50) | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genetic contributions to female gout and hyperuric others(75): Show |
2,115 East Asian ancestry cases, 17,965 East Asian others(19): Show |
ABCG2 | rs4148155-? | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Body mass index0.0185 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genetic architecture reconciles linkage and associ others(32): Show |
650,000 European ancestry individuals/ | ABCG2 | rs4148155-A | - | MODIFIER | chr4 | A | G | |
|
chr4:88128874
|
c.531+2187G>T |
3,5-dichloro-2,6-dihydroxybenzoic acid levels others(13): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,218 European ancestry individuals/ | ABCG2 | rs74904971-A | - | MODIFIER | chr4 | C | A | |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | 3-bromo-5-chloro-2,6-dihydroxybenzoic acid levelsothers(16): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,127 European ancestry individuals/ | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
chr4:88125050
|
c.532-3258G>A | Sulfate of piperine metabolite C18H21NO3 (1) levelsothers(19): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
7,021 European ancestry individuals/ | ABCG2 | rs141471965-T | - | MODIFIER | chr4 | C | T | |
|
chr4:88125050
|
c.532-3258G>A | Sulfate of piperine metabolite C18H21NO3 (3) levelsothers(19): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
7,006 European ancestry individuals/ | ABCG2 | rs141471965-T | - | MODIFIER | chr4 | C | T | |
|
chr4:88125050
|
c.532-3258G>A |
Perfluorooctanesulfonate (PFOS) levels0. others(6): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,218 European ancestry individuals/ | ABCG2 | rs141471965-T | - | MODIFIER | chr4 | C | T | |
|
chr4:88128874
|
c.531+2187G>T | 4-hydroxychlorothalonil levels0.518013 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,216 European ancestry individuals/ | ABCG2 | rs74904971-A | - | MODIFIER | chr4 | C | A | |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Urate levels0.139562 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genomic atlas of the plasma metabolome prioritizes others(42): Show |
8,264 European ancestry individuals/ | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
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 | |
|
chr4:88133515
|
c.204-880T>C | Body mass index (MTAG)0.018879 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Pleiotropic genetic architecture and novel loci fo others(28): Show |
694,649 European ancestry individuals/ | ABCG2 | rs4148155-A | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Body mass index0.0173 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genomics and phenomics of body mass index reveals others(26): Show |
1,122,049 European ancestry individuals/ | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | C-reactive protein levels (MTAG)0.018633 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Pleiotropic genetic architecture and novel loci fo others(28): Show |
575,531 European ancestry individuals/ | ABCG2 | rs4148155-A | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Body mass index0.0193527 | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
A Genomics England haplotype reference panel and i others(24): Show |
403,610 European ancestry individuals/ | ABCG2 | rs4148155-? | - | MODIFIER | chr4 | A | G | |
|
chr4:88117930
|
c.841+179T>C | Whole brain restricted isotropic diffusion (multivariate analysis)others(26): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Multivariate genome-wide association study on tiss others(78): Show |
23,543 European ancestry individuals/11,555 Europe others(64): Show |
ABCG2 | rs1481012-? | - | MODIFIER | chr4 | A | G | |
|
chr4:88128874
|
c.531+2187G>T | Plasma 4-hydroxychlorothalonil levels in chronic kidney diseaseothers(28): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,276 European ancestry individuals/ | ABCG2 | rs74904971-A | - | MODIFIER | chr4 | C | A | |
|
chr4:88117930
|
c.841+179T>C | Plasma 3-bromo-5-chloro-2,6-dihydroxybenzoic acid* levels in chronic kidney diseaseothers(48): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
3,022 European ancestry individuals/ | ABCG2 | rs1481012-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88133515
|
c.204-880T>C | Plasma 3,5-dichloro-2,6-dihydroxybenzoic acid levels in chronic kidney diseaseothers(43): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(52): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,545 European ancestry individuals/ | ABCG2 | rs4148155-G | - | MODIFIER | chr4 | A | G | |
|
chr4:88131171
|
c.421C>Ap.Gln141Lys | Plasma sulfate of piperine metabolite C18H21NO3 (1)* levels in chronic kidney diseaseothers(50): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,307 European ancestry individuals/ | ABCG2 | rs2231142-T | - | MODERATE | chr4 | G | T | |
|
chr4:88122482
|
c.532-690C>G | Urine sulfate of piperine metabolite C18H21NO3 (1)* levels in chronic kidney diseaseothers(49): Show | a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0003c0003t0003a0003c0003t0004a0006c0008t0001 | a0003c0003t0001g0004a0003c0003t0001g0117a0003c0003t0001g0178a0003c0003t0001g0180a0003c0003t0001g0182others(54): Show | HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,764 European ancestry individuals/ | ABCG2 | rs45499402-C | - | MODIFIER | chr4 | G | C |
