Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs67311347 0.925 0.120 3 40491752 intron variant G/A snv 0.36 2
rs5751129 0.752 0.320 22 41619761 intron variant C/T snv 0.69 14
rs132774 0.776 0.280 22 41635949 intron variant C/G snv 0.69 9
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
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 10
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv 8
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 8
rs1064794272
VHL
0.807 0.240 3 10146566 missense variant C/A snv 6
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 4
rs28940297
VHL
0.882 0.240 3 10149811 missense variant T/C;G snv 4
rs397516440
VHL
0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 4
rs779805
VHL
0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 4
rs869025621
VHL
0.882 0.240 3 10142079 missense variant A/C;G;T snv 4
rs776399733
VHL
0.882 0.120 3 10141965 missense variant C/A;T snv 6.5E-06 3
rs869025668
VHL
0.882 0.240 3 10149964 stop lost G/T snv 3
rs1642742
VHL
1.000 0.120 3 10150259 3 prime UTR variant G/A snv 0.57 1
rs1642743
VHL
1.000 0.120 3 10148783 intron variant C/G;T snv 1
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs1570360 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 38
rs10434 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 17