Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1024708183 0.925 0.040 19 7909761 missense variant A/G snv 4
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
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
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1131691041 17 7676271 frameshift variant -/A delins 3
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121965059
OAT
0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 4
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1372047743 8 47960120 missense variant C/T snv 9.7E-06 3
rs1383997 8 72005483 intron variant T/C snv 0.58 1
rs1395746092 19 43575449 missense variant T/C snv 7.0E-06 1
rs1431381385
XPC
3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 1
rs1470755915 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs1486253194
XPC
3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 1
rs150547487 16 3597425 missense variant T/C snv 9.9E-04 4.1E-03 1
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2232365 0.716 0.480 X 49259429 intron variant T/C snv 16