Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12770228 0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 4
rs202247756 1.000 0.080 10 102550019 missense variant C/T snv 2
rs603965 0.732 0.440 11 69648142 splice region variant G/A snv 14
rs267606541
AIP
0.827 0.160 11 67487147 stop gained C/T snv 5
rs2686876 0.882 0.080 11 258909 intergenic variant T/A;C snv 3
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1800067 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 17
rs150766139 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 13
rs4968451 0.732 0.160 17 61849946 intron variant A/C snv 0.15 13
rs768803947 0.882 0.080 17 7670624 missense variant C/A;T snv 4.0E-06; 4.0E-06 3
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1035938 0.776 0.120 19 47680514 missense variant C/G;T snv 0.29 8
rs1568234664 1.000 0.080 19 10154774 splice acceptor variant C/A snv 1
rs25406 0.807 0.120 20 5118990 intron variant G/A snv 0.41 8
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