Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200649225
rs200649225
CHEK2
2 0.925 0.080 22 28695752 missense variant C/T snv 2.8E-04 1.1E-04 0.010 1.000 1 2008 2008