Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9679290
EPAS1
0.925 0.120 2 46330505 intron variant G/C snv 0.41 2
rs9582036
FLT1
0.776 0.280 13 28311271 intron variant C/A snv 0.59 8
rs9420907
STN1
0.790 0.320 10 103916707 intron variant C/A;G snv 7
rs937475913
PRKDC
0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06 7
rs9332
MTRR
0.925 0.200 5 7900599 3 prime UTR variant G/A snv 0.21 2
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs879255678
FLCN ; MPRIP
0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 6
rs879255658
FLCN
0.882 0.160 17 17228135 start lost C/G snv 3
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs876658517
ATM ; C11orf65
1.000 0.120 11 108327735 missense variant A/G;T snv 1
rs869025668
VHL
0.882 0.240 3 10149964 stop lost G/T snv 3
rs869025621
VHL
0.882 0.240 3 10142079 missense variant A/C;G;T snv 4
rs864321679
SMIM4 ; PBRM1
1.000 0.120 3 52563364 frameshift variant CACTATCT/- delins 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs8106822
LOC107985311
0.925 0.120 19 31373516 intron variant G/A snv 0.42 2
rs8101626
DNMT1
1.000 0.120 19 10135353 intron variant G/A snv 0.64 1
rs8081059
SLC39A11
0.925 0.120 17 73072580 intron variant C/A snv 0.83 2
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs78683075
FLCN
1.000 0.120 17 17222565 missense variant G/A snv 2.6E-04 2.4E-04 1
rs7859384 0.882 0.120 9 79507370 intron variant A/C;G snv 6
rs779805
VHL
0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 4
rs776399733
VHL
0.882 0.120 3 10141965 missense variant C/A;T snv 6.5E-06 3
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs758175953
FLCN
0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 6