Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs28360317 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs3842530 0.827 0.120 1 209432292 non coding transcript exon variant GCAGCAGCAGCAGCAGCAGCAGCAGCA/-;GCA;GCAGCA;GCAGCAGCA;GCAGCAGCAGCA;GCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA delins 5
rs10012 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 16
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs1041983 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 15
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045411 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 18
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1047768 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1047972 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 19
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs10506868 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 16