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: 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: rs587780189
rs587780189
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs587781667
rs587781667
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs587781705
rs587781705
CHEK2
C 0.700 CausalMutation CLINVAR

dbSNP: rs587782401
rs587782401
CHEK2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs72552322
rs72552322
CHEK2
0.700 GeneticVariation UNIPROT

dbSNP: rs730881701
rs730881701
CHEK2
A 0.700 CausalMutation CLINVAR

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: rs778212685
rs778212685
CHEK2
0.010 GeneticVariation BEFREE CHEK2 truncating mutations (IVS2 + 1G>A or 1100delC) were identified in 9 of 1921 controls (0.5%) and in 11 of 690 (1.6%) unselected patients with prostate cancer [odds ratio (OR) = 3.4; P = 0.004]. 15087378

2004
dbSNP: rs786203472
rs786203472
CHEK2
0.010 GeneticVariation BEFREE CHEK2 truncating mutations (IVS2 + 1G>A or 1100delC) were identified in 9 of 1921 controls (0.5%) and in 11 of 690 (1.6%) unselected patients with prostate cancer [odds ratio (OR) = 3.4; P = 0.004]. 15087378

2004
dbSNP: rs863224748
rs863224748
CHEK2
0.010 GeneticVariation BEFREE CHEK2 truncating mutations (IVS2 + 1G>A or 1100delC) were identified in 9 of 1921 controls (0.5%) and in 11 of 690 (1.6%) unselected patients with prostate cancer [odds ratio (OR) = 3.4; P = 0.004]. 15087378

2004
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: 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: 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