Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 19
rs10088218 0.851 0.120 8 128531703 intron variant G/A snv 0.13 3
rs1011970 0.677 0.320 9 22062135 intron variant G/T snv 0.23 18
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs10260419 0.882 0.120 7 11524758 intron variant C/G snv 0.26 1
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 35
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 13
rs1057517643 0.882 0.280 17 61744578 stop gained A/T snv 3
rs1057517648 0.882 0.280 17 61859795 splice donor variant C/- delins 4
rs1057517809 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 4
rs1057517840 0.925 0.200 17 7674904 frameshift variant CT/- delins 3
rs1057519365 0.851 0.320 17 61780931 frameshift variant TT/- delins 5
rs1057519368 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 4
rs1057519747 0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 1
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs1057519925 0.683 0.560 3 179210291 missense variant G/A;C snv 24
rs1057519941 0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs1057519981 0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs1057519988 0.776 0.240 17 7673812 missense variant A/C;G;T snv 10
rs1057519995 0.807 0.240 17 7674200 missense variant T/A snv 8
rs1057519997 0.776 0.320 17 7676037 missense variant A/C;G;T snv 9
rs1057520002 0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs1057941 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 18
rs1060501687
ATM
0.925 0.320 11 108272782 stop gained G/T snv 4.0E-06 7.0E-06 2