Gene: CHEK2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908698
rs121908698
CHEK2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908701
rs121908701
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs121908702
rs121908702
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs137853009
rs137853009
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs137853010
rs137853010
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 CausalMutation CLINVAR

dbSNP: rs141568342
rs141568342
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs143611747
rs143611747
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs17879961
rs17879961
CHEK2
0.030 GeneticVariation BEFREE The missense variant I157T was also more frequent in men with prostate cancer (7.8%) than in controls (4.8%), but the relative risk was more modest (OR = 1.7; P = 0.03). 15087378

2004
dbSNP: rs17879961
rs17879961
CHEK2
0.030 GeneticVariation BEFREE Intriguingly, two other CHEK2 mutations (IVS2+1G>A and I157T) and a CHEK2 large genomic deletion (del9-10) have been associated with an elevated risk for prostate cancer. 17661168

2008
dbSNP: rs17879961
rs17879961
CHEK2
0.030 GeneticVariation BEFREE The missense variant I157T was associated with an increased risk of breast cancer (OR 1.4; P=.02), colon cancer (OR 2.0; P=.001), kidney cancer (OR 2.1; P=.0006), prostate cancer (OR 1.7; P=.002), and thyroid cancer (OR 1.9; P=.04). 15492928

2004
dbSNP: rs17886163
rs17886163
CHEK2
0.010 GeneticVariation BEFREE Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. 27595995

2016
dbSNP: rs200050883
rs200050883
CHEK2
0.010 GeneticVariation BEFREE Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. 27595995

2016
dbSNP: rs200917541
rs200917541
CHEK2
T 0.700 CausalMutation CLINVAR

dbSNP: rs540635787
rs540635787
CHEK2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR

dbSNP: rs560596101
rs560596101
CHEK2
G 0.700 CausalMutation CLINVAR

dbSNP: rs587780170
rs587780170
CHEK2
0.010 GeneticVariation BEFREE Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. 27595995

2016
dbSNP: rs587780189
rs587780189
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs587780194
rs587780194
CHEK2
0.700 GeneticVariation UNIPROT National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers. 19042984

2008
dbSNP: rs587780194
rs587780194
CHEK2
0.700 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009

2011
dbSNP: rs587780194
rs587780194
CHEK2
0.700 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes? 24071797

2014
dbSNP: rs587780194
rs587780194
CHEK2
0.700 GeneticVariation UNIPROT Early detection of prostate cancer: AUA Guideline. 23659877

2013
dbSNP: rs587780194
rs587780194
CHEK2
0.700 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs587781667
rs587781667
CHEK2
0.700 GeneticVariation UNIPROT