Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5844572 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 11 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1341239 | 0.776 | 0.360 | 6 | 22303975 | intron variant | A/C | snv | 0.65 | 8 | ||
rs437179 | 0.882 | 0.160 | 6 | 31961237 | missense variant | A/C | snv | 0.76 | 0.78 | 3 | |
rs6568431 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 7 | ||
rs6659932 | 0.827 | 0.240 | 1 | 67336688 | intron variant | A/C | snv | 0.81 | 5 | ||
rs729302 | 0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 | 6 | ||
rs12531711 | 0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv | 5 | |||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs1893592 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 12 | ||
rs2227981 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 12 | ||
rs9275428 | 0.925 | 0.120 | 6 | 32703201 | downstream gene variant | A/C;G | snv | 2 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs396991 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 14 | ||
rs179008 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 14 | |
rs9138 | 0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv | 12 | |||
rs1059702 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 7 | ||
rs1077393 | 0.882 | 0.200 | 6 | 31642752 | non coding transcript exon variant | A/G | snv | 0.44 | 3 | ||
rs10818488 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 8 | ||
rs11066301 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 12 | ||
rs11229 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 6 | |
rs1150753 | 0.925 | 0.120 | 6 | 32092090 | intron variant | A/G | snv | 6.3E-02 | 2 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1270942 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 11 |