DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs730881645 ×

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:

rs730881645

BRIP1

0.700

GeneticVariation

CLINVAR

The effects of genomic germline variant reclassification on clinical cancer care.

30728895

2019

dbSNP:

rs730881645

BRIP1

0.700

GeneticVariation

CLINVAR

Inherited Breast Cancer in Nigerian Women.

30130155

2018

dbSNP:

rs730881645

BRIP1

0.700

GeneticVariation

CLINVAR

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

25186627

2015