Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1946518 0.602 0.760 11 112164735 intron variant T/G snv 0.60 46
rs121913482 0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913105 0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs1800890 0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs879253942 0.677 0.400 17 7673826 missense variant A/G snv 28
rs121913503 0.689 0.200 15 90088606 missense variant C/A;T snv 23
rs121913485 0.716 0.400 4 1804372 missense variant A/G snv 18
rs2395185 0.724 0.360 6 32465390 intron variant G/T snv 0.29 17
rs3099844 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 13
rs2071286 0.752 0.280 6 32212119 intron variant C/T snv 0.17 12
rs9461776 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 11
rs9268853 0.790 0.440 6 32461866 intron variant T/C snv 0.29 10
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs267601394 0.807 0.200 7 148811635 missense variant T/A;G snv 8
rs267601395 0.925 0.160 7 148811636 missense variant A/G;T snv 7
rs267608150 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7