Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs927698341 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10
rs1431381385
XPC
3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 1
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1372047743 8 47960120 missense variant C/T snv 9.7E-06 3
rs774690269
LSM3 ; XPC
3 14178562 missense variant G/A;C snv 1.2E-05 1
rs773629528
XPC ; LSM3
3 14178554 synonymous variant G/A;C snv 1.2E-05 7.0E-06 1
rs121965059
OAT
0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 4
rs770726832
XPC
3 14170483 missense variant T/G snv 5.2E-05 1
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs150547487 16 3597425 missense variant T/C snv 9.9E-04 4.1E-03 1
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs61748181 0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 10
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205