Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs3790843 0.827 0.160 1 200041696 intron variant C/T snv 0.29 7
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
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
rs587778883 0.807 0.200 3 37025648 frameshift variant A/- del 7
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs889312 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 14
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs9502893 0.827 0.120 6 1339954 intergenic variant C/G;T snv 5
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99