Gene: CHEK2 ×
Source: BEFREE ×
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
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2004 2008
dbSNP: rs17886163
rs17886163
CHEK2
2 0.925 0.080 22 28695159 missense variant A/C snv 1.4E-03 5.4E-03 0.010 1.000 1 2016 2016
dbSNP: rs200050883
rs200050883
CHEK2
4 0.851 0.120 22 28695190 missense variant C/A;G;T snv 3.9E-04 3.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs587780170
rs587780170
CHEK2
4 0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs778212685
rs778212685
CHEK2
8 0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs786203472
rs786203472
CHEK2
5 0.827 0.120 22 28719414 start lost T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs863224748
rs863224748
CHEK2
5 0.827 0.120 22 28734721 start lost T/C snv 0.010 1.000 1 2004 2004