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: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.730 1.000 4 2008 2016
dbSNP: rs2236141
rs2236141
CHEK2 ; HSCB
3 0.882 0.080 22 28741882 5 prime UTR variant C/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs876659871
rs876659871
CHEK2
3 0.882 0.080 22 28719462 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010