CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Thyroid carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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