DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs761283611 ×

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:

rs761283611

BRCA2

0.700

CausalMutation

CLINVAR

Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

24156927

2014

dbSNP:

rs761283611

BRCA2

0.700

CausalMutation

CLINVAR

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

21769658

2012

dbSNP:

rs761283611

BRCA2

0.700

CausalMutation

CLINVAR

A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.

14647210

2003