Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs1135401891 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 1 | |||
rs56807175 | 1.000 | 0.040 | 2 | 145678654 | intron variant | -/C | ins | 0.16 | 1 | ||
rs1555454508 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 18 | |||
rs200327371 | 1.000 | 0.040 | 2 | 148671610 | intron variant | T/- | del | 3.1E-02 | 1 | ||
rs201447509 | 1.000 | 0.040 | 8 | 125236380 | intron variant | TC/- | del | 1 | |||
rs70988775 | 1.000 | 0.040 | 5 | 140776321 | intergenic variant | T/- | del | 0.53 | 1 | ||
rs869312830 | 1.000 | 0.040 | 16 | 30965014 | frameshift variant | C/- | del | 1 | |||
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs138449918 | 0.882 | 0.040 | 2 | 39936810 | intron variant | AT/-;ATAT | delins | 3 | |||
rs201048567 | 0.882 | 0.040 | 7 | 125615031 | intergenic variant | CA/- | delins | 1.0E-05 | 3 | ||
rs10650434 | 1.000 | 0.040 | 7 | 1985461 | intron variant | -/TC | delins | 0.57 | 1 | ||
rs11345859 | 1.000 | 0.040 | 4 | 54669212 | intron variant | CCC/-;C;CC;CCCC;CCCCC;CCCCCC | delins | 0.44 | 1 | ||
rs11409090 | 1.000 | 0.040 | 3 | 17846143 | intron variant | -/T | delins | 0.53 | 1 | ||
rs11439302 | 1.000 | 0.040 | 21 | 14869414 | intron variant | A/-;AA;AAA | delins | 1 | |||
rs139425113 | 1.000 | 0.040 | 8 | 4323090 | intron variant | A/-;AA;AAA | delins | 1 | |||
rs146678232 | 1.000 | 0.040 | 7 | 24737471 | intron variant | A/-;AA | delins | 0.15 | 1 | ||
rs201061212 | 1.000 | 0.040 | 15 | 80091637 | intron variant | AAAA/-;AA;AAA | delins | 4.3E-05 | 1 | ||
rs34269918 | 1.000 | 0.040 | 1 | 8364925 | intron variant | A/- | delins | 0.69 | 1 | ||
rs34685708 | 1.000 | 0.040 | 2 | 161972220 | intron variant | A/- | delins | 0.38 | 1 | ||
rs58033671 | 1.000 | 0.040 | 8 | 142238758 | intron variant | GCCCGCCCCTGCAC/-;GCCCGCCCCTGCACGCCCGCCCCTGCAC | delins | 1 | |||
rs5825114 | 1.000 | 0.040 | 18 | 55081986 | intergenic variant | A/-;AA | delins | 1 | |||
rs5891007 | 1.000 | 0.040 | 8 | 38163492 | 3 prime UTR variant | -/T | delins | 0.20 | 1 | ||
rs869312832 | 1.000 | 0.040 | 16 | 30966051 | frameshift variant | -/C | delins | 1 | |||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 34 |