DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs80357382, BRCA1

N. diseases: 11

Disease: Malignant neoplasm of breast ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Malignant neoplasm of breast

CUI:	C0006142
Disease:	Malignant neoplasm of breast

0.710

GeneticVariation

BEFREE

There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may have lower breast cancer penetrance.

18451254

2008

Malignant neoplasm of breast

CUI:	C0006142
Disease:	Malignant neoplasm of breast

0.710

CausalMutation

CLINVAR