rs189813937

This is a intron variant variant in the PINK1 gene.

GWAS Catalog Trait Associations (1)

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

level of cytidine deaminase in blood

Allele T
OR 0.30
p 4.0e-13
N 47,745
Large GWAS
European

About PINK1

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]

View all PINK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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