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
rs1047768 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs873601 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
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
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs2276466 0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv 15
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs11134527 0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs3811463 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 14
rs4796030 0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66 6
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
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs238406 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs3810366 0.732 0.280 19 45370684 5 prime UTR variant G/C;T snv 12
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62