present in Gene: KCNV2
present in Chromosome: 9
Position on Chromosome: 2718506
Alleles of this Variant: C/G;T
rs104894116 in
KCNV2 gene and
Retinal Cone Dystrophy 3B
PMID 16909397 2006 "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans."