DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Retinal Dystrophies ×

Variant: rs61750138 ×

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:

rs61750138

rs61750138

ABCA4

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

T

0.700

GeneticVariation

CLINVAR

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

2000