DisGeNET - a database of gene-disease associations

FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder), C3469521

Variant: rs267606997 ×

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:

rs267606997

rs267606997

RAD51C

0.010

GeneticVariation

BEFREE

The RAD51C missense mutation p.Arg258His has previously been identified in a homozygous state in a patient with Fanconi anemia.

2015