DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Retinitis Pigmentosa ×

Variant: rs281865377 ×

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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:

rs281865377

rs281865377

ABCA4

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

TG

0.700

CausalMutation

CLINVAR

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

2001