Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs937475913
PRKDC
0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06 7
rs718314
LOC105369705
0.882 0.120 12 26300350 intron variant A/G snv 0.27 6
rs7859384 0.882 0.120 9 79507370 intron variant A/C;G snv 6
rs1049380
ITPR2
0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69 5
rs7105934
LOC102724265
0.827 0.120 11 69424973 upstream gene variant G/A;C snv 5
rs1312268347
SARDH
0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 4
rs141683432
SPINT2
0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03 4
rs2606736
ATG7
1.000 0.120 3 11358775 intron variant C/A;T snv 4
rs779805
VHL
0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 4
rs1060502375
FLCN
0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06 3
rs1131690838
FLCN
0.925 0.120 17 17228135 frameshift variant C/- del 3
rs11894252
EPAS1
0.925 0.120 2 46306237 intron variant T/A;C;G snv 3
rs1362888828
TIAM1
0.925 0.120 21 31266532 synonymous variant C/T snv 4.0E-06 1.4E-05 3
rs553863637
PLEK
0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05 3
rs611646
ATM
0.882 0.120 11 108306370 intron variant T/A;C snv 3
rs776399733
VHL
0.882 0.120 3 10141965 missense variant C/A;T snv 6.5E-06 3
rs1010980331
FLCN ; MPRIP
0.925 0.120 17 17215072 missense variant T/C snv 2
rs10771279
ITPR2
0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 2
rs1154454
ADH7
0.925 0.120 4 99417185 intron variant A/G snv 0.22 2
rs11762213
MET
0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02 2
rs11813268 0.925 0.120 10 103922538 upstream gene variant C/T snv 0.31 2
rs1259293
FSTL1
0.925 0.120 3 120421014 intron variant T/C snv 0.59 2
rs12617313
EPAS1
0.925 0.120 2 46332637 intron variant A/G;T snv 2
rs1417080 0.925 0.120 9 79515946 non coding transcript exon variant T/C snv 0.35 2
rs1449964136
MITF
0.925 0.120 3 69936725 start lost G/A snv 8.0E-06 7.0E-06 2