Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
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
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
rs1470755915 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs1024708183 0.925 0.040 19 7909761 missense variant A/G snv 4
rs1131691041 17 7676271 frameshift variant -/A delins 3
rs3087468 16 2040233 missense variant C/A snv 3
rs1383997 8 72005483 intron variant T/C snv 0.58 1
rs1395746092 19 43575449 missense variant T/C snv 7.0E-06 1
rs1486253194
XPC
3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 1
rs2824215 21 17063088 intergenic variant A/C snv 0.34 1
rs749251734 3 14147981 frameshift variant GACGATGTATCCA/- delins 1
rs773632957 19 45368650 missense variant T/G snv 1
rs983889 5 15555377 intron variant G/T snv 0.55 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55