Gene: CHEK2 ×
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: rs28909982
rs28909982
CHEK2
4 0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs587782480
rs587782480
CHEK2
1 22 28699888 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs786202601
rs786202601
CHEK2
3 1.000 0.120 22 28694059 frameshift variant T/- delins 0.010 1.000 1 2006 2006