Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2094258 0.701 0.280 13 102844409 intron variant C/T snv 0.18 20
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 93
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 79
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
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 127
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 117
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 73
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 20
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs3790843 0.827 0.160 1 200041696 intron variant C/T snv 0.29 7
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 201
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 9
rs587778883 0.807 0.200 3 37025648 frameshift variant A/- del 6
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