Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1495743 8 18415790 intergenic variant G/A;C snv 4
rs150641967 19 19259532 intron variant AGAC/-;AGACAGAC delins 4
rs1558861 11 116736721 regulatory region variant C/G;T snv 4
rs1565228 11 27564889 intron variant G/A;C snv 4
rs176813 4 68733813 regulatory region variant T/C snv 0.38 4
rs2043082 15 58382109 intron variant G/A snv 0.32 4
rs2062432 3 123359232 intron variant G/A snv 0.43 4
rs2126259 1.000 8 9327636 intron variant T/C snv 0.87 4
rs217181 16 72080103 intron variant C/T snv 0.20 4
rs2207132 20 40513876 intergenic variant G/A snv 2.7E-02 4
rs2255141 10 112174128 intron variant A/G;T snv 4
rs2268719 6 52546915 intron variant C/T snv 0.21 4
rs2297991 10 112153464 3 prime UTR variant T/C snv 0.69 4
rs2384034 12 112766880 intron variant C/G;T snv 4
rs2803621 10 112179826 intron variant G/A snv 0.74 4
rs2854322
NF1
17 31372398 intron variant T/C snv 0.47 4
rs2954022 8 125470379 intron variant C/A;T snv 4
rs2980875 8 125469505 intron variant A/C;G;T snv 4
rs306890 Y 56944005 intergenic variant T/C snv 4
rs41274050 10 50814012 missense variant C/A;T snv 4.0E-06; 5.3E-03 4
rs4129767 17 78407903 intron variant G/A snv 0.46 4
rs4564803 2 20982630 intergenic variant G/T snv 0.25 4
rs4683438 3 142933717 non coding transcript exon variant G/T snv 0.33 4
rs4722551 7 25952206 upstream gene variant T/C;G snv 4
rs4805755 19 32363564 intron variant C/T snv 0.19 4