Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs1057520007 0.701 0.440 17 7674917 missense variant T/A;C;G snv 21
rs2232365 0.716 0.480 X 49259429 intron variant T/C snv 16
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 12
rs1024708183 0.925 0.040 19 7909761 missense variant A/G snv 4
rs1131691041 17 7676271 frameshift variant -/A delins 3
rs1372047743 8 47960120 missense variant C/T snv 9.7E-06 3
rs3087468 16 2040233 missense variant C/A snv 3
rs749251734 3 14147981 frameshift variant GACGATGTATCCA/- delins 1
rs770726832
XPC
3 14170483 missense variant T/G snv 5.2E-05 1