Disease: Retinal Dystrophies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205121
rs786205121
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
CUI: C0854723
Disease:
Retinal Dystrophies 		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
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
CUI: C0854723
Disease:
Retinal Dystrophies 		CCCGTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGT 0.700 GeneticVariation CLINVAR
dbSNP: rs977790637
rs977790637
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR