{{Rsnum
|rsid=11887534
|Gene=ABCG8
|Chromosome=2
|position=43839108
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.06428
|Gene_s=ABCG5,ABCG8
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 1.6 | 12.5 | 85.9
| HCB | 0.0 | 4.4 | 95.6
| JPT | 0.0 | 2.2 | 97.8
| YRI | 1.6 | 4.8 | 93.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 4.4 | 95.6
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}[[rs11887534]], a SNP in the hepatic cholesterol transporter [[ABCG8]] gene, has been implicated in [[gallstone disease]], a process known formally as cholelithiasis. The common allele, [[rs11887534]](G), encodes the aspartic acid (D), while the minor (C) allele encodes histidine (H).

In a study of ~1,000 German patients, the overall odds ratio associated with [[rs11887534]](C) carriers was 2.2 (CI: 1.8-2.6, p=1.4x10<sup>-14</sup>), and for (C;C) homozygotes, 7x. Up to 10% of the population attributable risk for gallstones may be accounted for by this SNP.{{PMID|17632509}}

{{GWAS Summary
|SNP=rs11887534
|PubMedID=17632509
|Condition=Gallstones
|Gene=ABCG8
|Risk Allele=C
|pValue=1.00E-014
|OR=2.2
|95CI=1.80-2.60
}}

{{omim
|id=611465
|desc=GALLBLADDER DISEASE 4
|rsnum=11887534
}}

{{omim
|id=605460
|desc=ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8
|rsnum=11887534
}}

{{PharmGKB
|RSID=rs11887534
|Name_s=
|Gene_s=ABCG5, ABCG8
|Feature=NA, Exon/NonSyn
|Evidence=PubMed ID:17632509; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease (Initial Sample Size: 280 cases, 360 controls; Replication Sample Size: 2,000 cases, 1,202 controls; Risk Allele: rs11887534-C).
|Drugs=
|Drug Classes=
|Diseases=Cholelithiasis
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356671
}}

{{PMID Auto
|PMID=20592455
|Title=Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy
|OA=1
}}

{{PharmGKB
|RSID=rs11887534
|Name_s=ABCG8:D19H
|Gene_s=ABCG5, ABCG8
|Feature=NA, Exon/NonSyn
|Evidence=PubMed ID:17632509
|Annotation=In a GWAS of cases and controls from an unspecificied population, rs11887534 was found to be associated with gallstones. This finding was replicated in German and Chilean populations.
|Drugs=
|Drug Classes=
|Diseases=Cholelithiasis
|Curation Level=Curated
|PharmGKB Accession ID=PA162356120
}}
{{PMID Auto
|PMID=21062971
|Title=Cholesterol Metabolism Gene Polymorphisms and the Risk of Biliary Tract Cancers and Stones: A Population-Based Case-Control Study in Shanghai, China
}}

{{omim
|id=605460
|rsnum=11887534
|variant=0009
}}

{{ClinVar
|rsid=11887534
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=44066247
|CHROM=2
|GMAF=0.0646
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050178000000150517130101
|GENEINFO=ABCG5:64240; ABCG8:64241
|GENE_NAME=ABCG5; ABCG8
|GENE_ID=64240; 64241
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000002.11:g.44066247G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605460.0009
|CLNSIG=5
|CLNCUI=C1969115
|CLNDBN=Gallbladder disease 4
|Disease=Gallbladder disease 4
|CLNACC=RCV000005263.1
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9357; 0.06428
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1969115:611465
|COMMON=1
}}

{{PMID Auto
|PMID=15996216
|Title=Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
|OA=1
}}

{{PMID Auto
|PMID=16507104
|Title=A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
|OA=1
}}

{{PMID Auto
|PMID=18224312
|Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
|OA=1
}}

{{PMID Auto
|PMID=19005228
|Title=The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19018975
|Title=Single nucleotide polymorphism in the ABCG8 transporter gene is associated with gallbladder cancer susceptibility.
}}

{{PMID Auto
|PMID=19060906
|Title=Common variants at 30 loci contribute to polygenic dyslipidemia.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19822575
|Title=Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.
|OA=1
}}

{{PMID Auto
|PMID=21039838
|Title=Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India.
}}

{{PMID Auto
|PMID=21285406
|Title=Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study.
}}

{{GET Evidence
|gene=ABCG8
|aa_change=Asp19His
|aa_change_short=D19H
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs11887534
|overall_frequency_n=531
|overall_frequency_d=9216
|overall_frequency=0.0576172
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_omim=Y
|in_gwas=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=3
|autoscore=3
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=24256507
|Title=Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)
|OA=1
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}