rs11105306
This is a downstream gene variant variant in the POC1B gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cardiovascular disease biomarker measurement
Johansson Å et al. “Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.” Human Molecular Genetics 25(7):1447-56 (2016)
Allele T
OR 0.19
p 1.0e-16
N 3,740
Large GWAS
multi-ancestry
About POC1B
POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
View all POC1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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