Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
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
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 54
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1800625 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 39
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13
rs11671784 0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02 9
rs1332018 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 6