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: rs121908698
rs121908698
CHEK2
7 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
dbSNP: rs137853011
rs137853011
CHEK2
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
dbSNP: rs200432447
rs200432447
CHEK2
4 0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587782008
rs587782008
CHEK2
3 0.925 0.200 22 28725084 inframe deletion TCT/- delins 1.6E-05 0.700 0
dbSNP: rs72552322
rs72552322
CHEK2
7 0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0