Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs145067756 17 48923631 intron variant -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG delins 0.40 1
rs779957223 1.000 0.040 19 53804069 frameshift variant -/AG ins 1.2E-05 1.4E-05 2
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs148158062 1 147468451 intron variant -/GTTCCTTC delins 1
rs56352300 1 147468451 intron variant -/GTTCCTTC delins 0.42 1
rs34234989 0.882 0.120 20 35186731 intron variant A/- delins 0.40 5
rs1333048 0.683 0.320 9 22125348 intron variant A/C snv 0.44 24
rs2980853 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 16
rs72664207 0.882 0.240 16 16185039 splice region variant A/C snv 2.4E-05 1.4E-05 6
rs371045754
F9
0.882 0.200 X 139530726 upstream gene variant A/C snv 5.5E-06 1.9E-05 4
rs463312 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 4
rs7201 0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37 4
rs9351814 0.882 0.040 6 71484004 intergenic variant A/C snv 0.35 4
rs1711972 0.925 0.160 6 1388953 upstream gene variant A/C snv 4.7E-02 3
rs1186757238 1.000 0.040 5 59039089 5 prime UTR variant A/C snv 2
rs783396 1.000 0.080 6 106539495 missense variant A/C snv 0.93 0.93 2
rs14259 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 19
rs1044498 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 15
rs1057910 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 12
rs118192162 0.851 0.120 19 38455359 missense variant A/C;G snv 6
rs1052053 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 3
rs397514465 0.925 0.280 5 59193507 missense variant A/C;G snv 3
rs17329620 12 87757000 upstream gene variant A/C;G snv 0.11 1
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs7304841 1.000 0.080 12 20424659 intron variant A/C;G;T snv 2