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
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 54
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs144848 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs2228611 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 19
rs6166 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 17
rs1800477 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 12
rs995030 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 9
rs175080 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 9
rs26279 0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70 9
rs2477686 0.807 0.040 1 2461209 intron variant G/C snv 0.64 7
rs4474514 0.827 0.240 12 88560182 intron variant G/A snv 0.65 6
rs2075789 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 6