DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs370228071 ×

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:

rs370228071

RAD51D ; RAD51L3-RFFL

0.700

GeneticVariation

CLINVAR

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

28646019

2017

dbSNP:

rs370228071

RAD51D ; RAD51L3-RFFL

0.700

GeneticVariation

CLINVAR

Improving performance of multigene panels for genomic analysis of cancer predisposition.

26845104

2016

dbSNP:

rs370228071

RAD51D ; RAD51L3-RFFL

0.700

GeneticVariation

CLINVAR

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

26976419

2016

dbSNP:

rs370228071

RAD51D ; RAD51L3-RFFL

0.700

GeneticVariation

CLINVAR

Germline mutation in the RAD51B gene confers predisposition to breast cancer.

24139550

2013

dbSNP:

rs370228071

RAD51D ; RAD51L3-RFFL

0.700

GeneticVariation

CLINVAR

Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

22986143

2012

dbSNP:

rs370228071

RAD51D ; RAD51L3-RFFL

0.700

GeneticVariation

CLINVAR

Germline mutations in RAD51D confer susceptibility to ovarian cancer.

21822267

2011