Gene: KCNV2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205121
rs786205121
KCNV2
T 0.700 CausalMutation CLINVAR Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. 21882291

2011
dbSNP: rs1554628460
rs1554628460
KCNV2
CCCGTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGT 0.700 GeneticVariation CLINVAR

dbSNP: rs977790637
rs977790637
KCNV2
A 0.700 GeneticVariation CLINVAR