DisGeNET - a database of gene-disease associations

STARGARDT DISEASE 1 (disorder), C1855465

Variant: rs1402837406 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1402837406

rs1402837406

KCNV2

TC

0.700

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

2019