DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs7713645, PIK3R1

N. diseases: 4

Disease: Malignant neoplasm of breast ×

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

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

0.010

GeneticVariation

BEFREE

For AA women, variants in RPTOR rs3817293 (intron), PIK3R1 rs7713645 (intron), and CDKAL1 rs9368197 were associated with decreased breast cancer risk.

27314662

2016