Rs11887534

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs11887534
PheGenI	rs11887534
nextbio	rs11887534
hapmap	rs11887534
1000 genomes	rs11887534
hgdp	rs11887534
ensembl	rs11887534
gopubmed	rs11887534
geneview	rs11887534
scholar	rs11887534
google	rs11887534
pharmgkb	rs11887534
gwascentral	rs11887534
openSNP	rs11887534
23andMe	rs11887534
23andMe all	rs11887534
SNP Nexus
SNPshot	rs11887534
SNPdbe	rs11887534
MSV3d	rs11887534

Gene	ABCG5, ABCG8

Chromosome

2

Orientation

plus

Position

44066247

Reference

GRCh37.p2 37.2/134

Max Magnitude

2.1

Geno	Mag	Summary
(C;C)	2.1	7x increased risk for gallstones
(C;G)	2.1	2x increased risk for gallstones
(G;G)	0	normal risk for gallstones

?	(C;C) (C;G) (G;G)	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^-14), 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
SNP	rs11887534
PubMedID	[PMID 17632509]
Condition	Gallstones
Gene	ABCG8
Risk Allele	C
pValue	1.00E-014
OR	2.2
95% CI	1.80-2.60

OMIM	611465
Desc	GALLBLADDER DISEASE 4
Variant
Related	also

OMIM	605460
Desc	ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8
Variant
Related	also

[PMID 20592455] Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy

[PMID 21062971] Cholesterol Metabolism Gene Polymorphisms and the Risk of Biliary Tract Cancers and Stones: A Population-Based Case-Control Study in Shanghai, China

OMIM	605460
Desc
Variant	0009
Related	also

ClinVar
Risk	rs11887534(A,C;A,C)
Normal	rs11887534(G;G)
Significance	5
Disease	Gallbladder disease 4
ClinVar	info
Gene	ABCG8
CLNDBN	Gallbladder disease 4
Reversed	0
CLNHGVS	NC_000002.11:g.44066247G>A
CLNSRC	OMIM Allelic Variant

[PMID 15996216] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

[PMID 16507104] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

[PMID 19005228] The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.

[PMID 19018975] Single nucleotide polymorphism in the ABCG8 transporter gene is associated with gallbladder cancer susceptibility.

[PMID 19060906] Common variants at 30 loci contribute to polygenic dyslipidemia.

[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19822575] Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.

[PMID 21039838] Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India.

[PMID 21285406] Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study.

GET Evidence
ABCG8-D19H
aa_change	Asp19His
aa_change_short	D19H
impact	pathogenic
qualified_impact	Insufficiently evaluated pathogenic
overall_frequency	0.0576172
summary