CHEK2, checkpoint kinase 2, 11200

N. diseases: 48; N. variants: 209
Disease: Thyroid carcinoma ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs555607708
rs555607708 		0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.700 0