DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa, C0035334

Variant: rs527236065 ×

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:

rs527236065

rs527236065

EYS

CT

0.700

GeneticVariation

CLINVAR

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

2019

dbSNP:

rs527236065

rs527236065

EYS

CT

0.700

CausalMutation

CLINVAR