DisGeNET - a database of gene-disease associations

FANCONI ANEMIA, COMPLEMENTATION GROUP O, C3150653

Variant: rs730881933 ×

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:

rs730881933

RAD51C ; LOC105371843

0.700

GeneticVariation

CLINVAR

Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.

24800917

2014

dbSNP:

rs730881933

RAD51C ; LOC105371843

0.700

GeneticVariation

CLINVAR

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

21990120

2012

dbSNP:

rs730881933

RAD51C ; LOC105371843

0.700

GeneticVariation

CLINVAR

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

20400964

2010