Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs53576 0.641 0.320 3 8762685 intron variant A/G;T snv 42
rs6318 0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs63751273 0.645 0.280 17 46010389 missense variant C/T snv 42
rs16139 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs746682028 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 36
rs5882 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs1360780 0.708 0.320 6 35639794 intron variant T/A;C snv 31
rs63750424 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 30
rs743572 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 24
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv 17
rs4606 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 16
rs6354 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 16
rs1043307 0.776 0.360 12 121915890 missense variant A/C;G snv 14
rs63750579
APP
0.742 0.280 21 25891856 missense variant C/G;T snv 13
rs9470080 0.827 0.080 6 35678658 intron variant T/A;C snv 13
rs110402 0.790 0.120 17 45802681 intron variant G/A;C snv 12
rs2298383 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 11
rs4713916 0.790 0.160 6 35702206 intron variant A/C;G;T snv 11
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs1481318368
TH
0.827 0.120 11 2169802 missense variant C/T snv 10
rs2020936 0.776 0.160 17 30223796 intron variant G/A;C snv 10
rs12454712 0.925 0.120 18 63178651 intron variant T/A;C snv 9