Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs7574920
XDH
0.882 0.080 2 31362783 intron variant G/C snv 0.42 3
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 7
rs768803947 0.882 0.080 17 7670624 missense variant C/A;T snv 4.0E-06; 4.0E-06 3
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs202247756 1.000 0.080 10 102550019 missense variant C/T snv 2
rs9420907 0.790 0.320 10 103916707 intron variant C/A;G snv 7
rs699473 0.827 0.160 4 24795181 intron variant C/T snv 0.54 5
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs25406 0.807 0.120 20 5118990 intron variant G/A snv 0.41 8
rs150766139 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 13
rs121434259
NF2
0.925 0.160 22 29636805 stop gained C/T snv 2
rs587776563
NF2
1.000 0.080 22 29668440 frameshift variant A/- delins 1
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs10936599 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs3219466 0.851 0.080 1 45340381 5 prime UTR variant G/A;T snv 4
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
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
rs1243180 0.790 0.160 10 21626690 intron variant T/A snv 0.23 7
rs11012732 0.882 0.080 10 21541175 intron variant A/G snv 0.31 5
rs12770228 0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 4
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104