Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13
rs11568818 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs773862672 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 6
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs762807774 1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 2
rs1057519771 1.000 0.080 9 130872201 missense variant G/C snv 2
rs104893626 0.827 0.280 2 136114915 stop gained G/C snv 11
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1285136498 0.807 0.080 5 143400101 missense variant G/A snv 13
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2073778 22 20087052 non coding transcript exon variant C/T snv 0.12 1
rs720012 22 20111059 3 prime UTR variant G/A snv 0.12 1
rs438034 0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 4
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 9
rs200863613 0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04 6
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31