DisGeNET - a database of gene-disease associations

KCNV2, potassium voltage-gated channel modifier subfamily V member 2, 169522

N. diseases: 19; N. variants: 15

Disease: Retinal Cone Dystrophy 3B ×

Variant: rs140256288 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs140256288

rs140256288

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

T

0.700

CausalMutation

CLINVAR