rs552976

This is a intron variant variant in the ABCB11 gene.

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GWAS Catalog Trait Associations (3)

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 0.16
p 4.0e-25
N 1,164,961
Meta-analysisLarge GWAS
European
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.16
p 8.0e-20
N 1,028,980
Large GWAS
multi-ancestry
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele A
OR 0.16
p 6.0e-10
N 526,001
Large GWAS
European

HbA1c measurement

Soranzo N et al. “Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.” Diabetes 59(12):3229-39 (2010)
Allele G
OR 0.05
p 8.0e-18
N 46,368
Large GWAS
European
Appel EVR et al. “Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population.” European Journal of Human Genetics : Ejhg 26(6):868-875 (2018)
Allele G
OR 0.10
p 5.0e-10
N 4,049
Large GWAS
European

systolic blood pressure

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 0.13
p 3.0e-9
N 1,164,961
Meta-analysisLarge GWAS
European
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.14
p 2.0e-8
N 1,028,980
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

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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