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: rs1057517643
rs1057517643
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs1057517648
rs1057517648
4 0.882 0.280 17 61859795 splice donor variant C/- delins 0.700 0
dbSNP: rs1057517809
rs1057517809
4 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1057517840
rs1057517840
3 0.925 0.200 17 7674904 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057519368
rs1057519368
4 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1057519941
rs1057519941
10 0.776 0.240 3 179203761 missense variant T/C;G snv 0.700 0
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1057519988
rs1057519988
10 0.776 0.240 17 7673812 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1057519995
rs1057519995
9 0.807 0.240 17 7674200 missense variant T/A snv 0.700 0
dbSNP: rs1057519997
rs1057519997
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1057520002
rs1057520002
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 0
dbSNP: rs1060501687
rs1060501687
ATM
2 0.925 0.320 11 108272782 stop gained G/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1060502333
rs1060502333
3 0.882 0.200 17 43093322 frameshift variant T/- delins 0.700 0
dbSNP: rs1060502787
rs1060502787
2 0.925 0.160 16 23626399 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs1064793732
rs1064793732
3 0.882 0.320 3 179204536 missense variant G/A snv 0.700 0
dbSNP: rs1064793881
rs1064793881
3 0.925 0.120 17 7673784 missense variant C/T snv 0.700 0
dbSNP: rs1064793887
rs1064793887
2 0.925 0.240 17 61743135 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1064793929
rs1064793929
5 0.882 0.280 17 7675167 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1064796722
rs1064796722
1 1.000 0.120 17 7676043 missense variant A/C;G snv 0.700 0
dbSNP: rs1114167776
rs1114167776
2 1.000 0.120 2 47791020 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691022
rs1131691022
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 0.700 0
dbSNP: rs1131691029
rs1131691029
6 0.827 0.160 17 7673794 missense variant C/G snv 0.700 0
dbSNP: rs1131691039
rs1131691039
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs113954997
rs113954997
3 0.882 0.280 11 14294844 missense variant T/A;C snv 0.700 0