Disease: Progressive cone dystrophy (without rod involvement) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1402837406
rs1402837406
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
CUI: C0271092
Disease:
Progressive cone dystrophy (without rod involvement) 		TC 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019