DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 ×

Variant: rs1555286294 ×

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:

rs1555286294

rs1555286294

BRCA2

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

A

0.700

CausalMutation

CLINVAR

Essential Role of BRCA2 in Ovarian Development and Function.

2018