DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 ×

Variant: rs80358981 ×

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:

rs80358981

BRCA2

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

CausalMutation

CLINVAR

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

25085752

2014

dbSNP:

rs80358981

BRCA2

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

CausalMutation

CLINVAR

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

23555315

2013

dbSNP:

rs80358981

BRCA2

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

16284991

2005

dbSNP:

rs80358981

BRCA2

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

CausalMutation

CLINVAR

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

9150154

1997