rs4938534
This is a intron variant variant in the BTG4 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
primary biliary cirrhosis
Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele G
OR 0.25
p 3.0e-10
N 6,778
Meta-analysis
East Asian
Kawashima M et al. “Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.” Human Molecular Genetics 26(3):650-659 (2017)
Allele G
OR 1.35
p 1.0e-8
N 2,886
Large GWAS
East Asian
biliary liver cirrhosis
Nakamura M et al. “Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.” American Journal of Human Genetics 91(4):721-8 (2012)
Allele A
OR 1.39
p 2.0e-8
N 963
Small GWAS
East Asian
About BTG4
The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]
View all BTG4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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