DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Breast Carcinoma ×

Variant: rs80357382 ×

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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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80357382

rs80357382

BRCA1

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.010

GeneticVariation

BEFREE

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

2008