Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
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
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
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs745564626 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 14
rs776223836 0.763 0.280 19 45364045 missense variant G/A snv 11
rs941759532 0.763 0.240 16 13932175 missense variant C/G snv 11
rs767551092
XPC
0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 10
rs1799966 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 8
rs80357610 0.851 0.160 17 43094550 frameshift variant GT/- delins 7
rs778990691 0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06 6
rs746965070
NBN
0.827 0.200 8 89955487 missense variant T/C snv 1.2E-05 5
rs376556895 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 4
rs755024903 0.851 0.200 19 54983029 missense variant G/A;T snv 7.5E-05; 4.2E-06 4
rs781367751 0.851 0.200 17 34991822 missense variant A/G snv 1.2E-05 4
rs121913019 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 3