Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1243180 0.790 0.160 10 21626690 intron variant T/A snv 0.23 7
rs9420907 0.790 0.320 10 103916707 intron variant C/A;G snv 7
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 7
rs267606541
AIP
0.827 0.160 11 67487147 stop gained C/T snv 5
rs11012732 0.882 0.080 10 21541175 intron variant A/G snv 0.31 5
rs699473 0.827 0.160 4 24795181 intron variant C/T snv 0.54 5
rs12770228 0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 4
rs3219466 0.851 0.080 1 45340381 5 prime UTR variant G/A;T snv 4
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs2686876 0.882 0.080 11 258909 intergenic variant T/A;C snv 3
rs768803947 0.882 0.080 17 7670624 missense variant C/A;T snv 4.0E-06; 4.0E-06 3
rs7574920
XDH
0.882 0.080 2 31362783 intron variant G/C snv 0.42 3
rs121434259
NF2
0.925 0.160 22 29636805 stop gained C/T snv 2
rs202247756 1.000 0.080 10 102550019 missense variant C/T snv 2
rs1329443726 1.000 0.080 9 21971097 frameshift variant C/- delins 1
rs1475218156 1.000 0.080 9 22006096 missense variant C/G;T snv 4.2E-06; 8.4E-06 1
rs1568234664 1.000 0.080 19 10154774 splice acceptor variant C/A snv 1
rs587776563
NF2
1.000 0.080 22 29668440 frameshift variant A/- delins 1