Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs12029406 0.882 0.120 1 199936700 intergenic variant C/T snv 0.36 3
rs104894094 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 12
rs786204195 0.851 0.200 9 21974686 missense variant G/A;T snv 4
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59