DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80357299 ×

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:

rs80357299

BRCA1

0.700

GeneticVariation

CLINVAR

Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient.

23522120

2013

dbSNP:

rs80357299

BRCA1

0.700

GeneticVariation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010