Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2288349 0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35 5
rs16999593 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 14
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs473543 0.925 0.080 6 106327811 upstream gene variant A/C;G snv 2
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs40239
MET
0.851 0.120 7 116677823 intron variant G/A snv 0.87 4
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 16
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs4849887 0.807 0.080 2 120487546 intergenic variant T/A;C snv 7
rs1219648 0.716 0.320 10 121586676 intron variant A/G;T snv 17
rs769772228 0.925 0.080 2 136115346 missense variant C/G snv 2.0E-05 4.9E-05 2
rs2228014 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 14
rs1800067 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 17
rs373587423 0.851 0.080 16 13935425 missense variant T/C snv 3.6E-05 7.0E-06 4
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs750040814
XPC
0.827 0.160 3 14158639 missense variant C/T snv 1.6E-05 5.6E-05 5
rs10274701 0.925 0.080 7 148855364 intron variant C/T snv 0.76 2
rs9485372 0.807 0.120 6 149287738 intron variant G/A snv 0.20 6
rs12662670 0.851 0.080 6 151597721 intron variant T/C;G snv 4
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 21
rs718282 0.925 0.080 7 152638744 intergenic variant A/G snv 0.94 2
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs2814778 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 24
rs12075 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 22
rs141366047 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 3