DisGeNET - a database of gene-disease associations

Malignant neoplasm of breast, C0006142

Variant: rs200432447 ×

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:

rs200432447

CHEK2

0.700

GeneticVariation

CLINVAR

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

27751358

2016

dbSNP:

rs200432447

CHEK2

0.700

GeneticVariation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs200432447

CHEK2

0.700

GeneticVariation

CLINVAR

Use of panel tests in place of single gene tests in the cancer genetics clinic.

25318351

2015

dbSNP:

rs200432447

CHEK2

0.700

GeneticVariation

CLINVAR

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

25503501

2015

dbSNP:

rs200432447

CHEK2

0.700

GeneticVariation

CLINVAR

Karyopherin-alpha2 protein interacts with Chk2 and contributes to its nuclear import.

12909615

2003