Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs11134527 0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913465 0.763 0.160 7 55181312 missense variant G/T snv 11
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs12296850 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 3
rs1340420 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 3
rs1454328441 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 6
rs1770474 0.925 0.080 10 91833770 intron variant G/A;T snv 3
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs181696 0.925 0.080 3 155548315 intron variant T/C snv 0.55 3
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2229090
XPC
0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 6
rs2229094 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 17
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83