Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs886039920 0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 7
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs874945 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 14
rs869312774 0.925 0.160 16 23614019 frameshift variant T/- delins 3
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs851797 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 13
rs8170 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 13
rs80359078 0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05 3
rs80358981 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 7
rs80358721 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 14
rs80357796 0.752 0.240 17 43094464 frameshift variant T/- del 11
rs80357750 0.790 0.200 17 43115759 frameshift variant G/- delins 8
rs80357474 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 5
rs80357438 0.851 0.200 17 43124032 stop gained A/G;T snv 5
rs80357138 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 9
rs80356952 0.790 0.200 17 43093901 stop gained G/A snv 9
rs80356898 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 11
rs80356897 0.827 0.160 17 43099853 missense variant A/G snv 5
rs786203319 0.827 0.160 17 43115759 missense variant G/A snv 6
rs764918809 0.827 0.160 12 68839337 missense variant T/C snv 4.0E-06 6
rs752742313 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs750042441 0.827 0.160 11 101128367 missense variant G/A;C snv 6.1E-05; 4.3E-06 5
rs748876625 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 10