DisGeNET - a database of gene-disease associations

Malignant neoplasm of breast, C0006142

Variant: rs587782575 ×

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:

rs587782575

CHEK2

0.700

GeneticVariation

CLINVAR

Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

27751358

2016

dbSNP:

rs587782575

CHEK2

0.700

GeneticVariation

CLINVAR

A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.

24713400

2014

dbSNP:

rs587782575

CHEK2

0.700

GeneticVariation

CLINVAR

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

24763289

2014

dbSNP:

rs587782575

CHEK2

0.700

GeneticVariation

CLINVAR

Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

21876083

2011