CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555607708
rs555607708
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0549473
Disease:
Thyroid carcinoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0549473
Disease:
Thyroid carcinoma
0.020 GeneticVariation BEFREE A truncating mutation (IVS2 + 1G>A, 1100delC or del5395) was associated with a higher risk of thyroid cancer (OR = 5.7; p = 0.006), than was the missense mutation I157T (OR = 2.8; p = 0.0001). 25583358 2015
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0549473
Disease:
Thyroid carcinoma
0.020 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: rs778212685
rs778212685
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0549473
Disease:
Thyroid carcinoma
0.010 GeneticVariation BEFREE A truncating mutation (IVS2 + 1G>A, 1100delC or del5395) was associated with a higher risk of thyroid cancer (OR = 5.7; p = 0.006), than was the missense mutation I157T (OR = 2.8; p = 0.0001). 25583358 2015
dbSNP: rs786203472
rs786203472
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0549473
Disease:
Thyroid carcinoma
0.010 GeneticVariation BEFREE A truncating mutation (IVS2 + 1G>A, 1100delC or del5395) was associated with a higher risk of thyroid cancer (OR = 5.7; p = 0.006), than was the missense mutation I157T (OR = 2.8; p = 0.0001). 25583358 2015
dbSNP: rs863224748
rs863224748
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0549473
Disease:
Thyroid carcinoma
0.010 GeneticVariation BEFREE A truncating mutation (IVS2 + 1G>A, 1100delC or del5395) was associated with a higher risk of thyroid cancer (OR = 5.7; p = 0.006), than was the missense mutation I157T (OR = 2.8; p = 0.0001). 25583358 2015