Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs560890523 1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 3
rs57698689 1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.48 2
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs750802459 1.000 0.120 4 184635342 frameshift variant TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- delins 5.6E-05 2
rs868257011 0.925 0.080 10 87961042 frameshift variant TACTT/- del 4
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs3021094 0.827 0.360 1 206771607 intron variant T/G snv 8.0E-02 8
rs752366963 1.000 20 18548646 missense variant T/G snv 8.0E-06 7.0E-06 2
rs763780 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs3798577 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 16
rs1478604 0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40 9
rs11099592 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 5
rs1341667 0.925 0.040 10 68882104 missense variant T/C snv 0.62 0.57 4
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1646724 0.925 0.080 7 134317123 upstream gene variant T/A;G snv 3
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 24
rs3917412 1.000 0.040 1 169731361 intron variant T/A;C;G snv 4
rs4939827 0.708 0.160 18 48927093 intron variant T/A;C snv 25