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 | 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 |