Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1800067 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 17
rs603965 0.732 0.440 11 69648142 splice region variant G/A snv 14
rs150766139 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 13
rs25406 0.807 0.120 20 5118990 intron variant G/A snv 0.41 8
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 7
rs12770228 0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 4
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs3219466 0.851 0.080 1 45340381 5 prime UTR variant G/A;T snv 4
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs7574920
XDH
0.882 0.080 2 31362783 intron variant G/C snv 0.42 3
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs1243180 0.790 0.160 10 21626690 intron variant T/A snv 0.23 7
rs2686876 0.882 0.080 11 258909 intergenic variant T/A;C snv 3
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93