Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs12740674 0.882 0.080 1 68121775 intron variant C/T snv 0.34 4
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 37
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs772399455 0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06 6
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs876658657 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs761896295 1.000 0.080 4 1804450 missense variant G/A snv 2.4E-05 2.1E-05 2
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42