CHEK2, checkpoint kinase 2, 11200

N. diseases: 48; N. variants: 209
Disease: Multiple congenital anomalies ×
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: rs1060502716
rs1060502716 		1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 2001 2015