rs563694

This variant is located in the ABCB11 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.15
p 1.0e-22
N 1,164,961
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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A genetic variant of G6PC2 is associated with type 2 diabetes and fasting plasma glucose level in the Chinese population
AssociationN=3,676Hu C. et al.(2009)· Diabetologia

This case-control association study of 3,676 Shanghai Chinese individuals (1,876 cases, 1,800 controls) identified rs16856187 in G6PC2 as associated with type 2 diabetes (p=0.0009, OR=1.191) and fasting plasma glucose level (β=0.067 mmol/l per C allele, p=0.0002). This SNP differs from the European-associated variants rs560887 and rs563694, suggesting population-specific genetic architecture in G6PC2.

Traits studied:Fasting plasma glucoseType 2 diabetes
PubMedDOIMetascience Observatory
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A variant in the G6PC2/ABCB11 locus is associated with increased fasting plasma glucose, increased basal hepatic glucose production and increased insulin release after oral and intravenous glucose loads
AssociationN=6,054Rose CS et al.(2009)· Diabetologia

This study found that rs560887 G allele in the G6PC2/ABCB11 locus is associated with increased fasting plasma glucose (OR 1.26, 95% CI 1.08-1.47 for impaired fasting glucose risk, p=0.002) and increased basal hepatic glucose production in elderly twins (p=0.04). The variant also associates with increased insulin release after oral and intravenous glucose loads, but shows no association with type 2 diabetes (OR 0.93, p=0.2) or metabolic syndrome.

Traits studied:Basal hepatic glucose productionFasting plasma glucoseImpaired fasting glucose (IFG)Impaired glucose tolerance (IGT)Insulin secretionMetabolic syndromeType 2 diabetes
PubMedDOIMetascience Observatory

About ABCB11

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]

View all ABCB11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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