rs12186662

This variant is located in the ADGRV1 gene.

▶

GWAS Catalog Trait Associations (1)

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

melanoma

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)

Allele G

OR 1.12

p 1.0e-8

N 417,127

Large GWAS

European

About ADGRV1

This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]

View all ADGRV1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…