CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: melanoma ×
Source: ALL
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: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 0