Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10878640 | 12 | 67643308 | intergenic variant | G/T | snv | 0.32 | 1 | ||||
rs12827748 | 12 | 79694798 | intron variant | T/C | snv | 0.50 | 1 | ||||
rs2155225 | 11 | 76640853 | intergenic variant | A/T | snv | 0.61 | 1 | ||||
rs6082527 | 20 | 2256129 | intron variant | G/A | snv | 0.88 | 1 | ||||
rs200246711 | 2 | 219216057 | missense variant | C/A;T | snv | 2.0E-04 | 1 | ||||
rs1467080090 | 2 | 210216495 | missense variant | A/G | snv | 4.0E-06 | 1 | ||||
rs935677460 | 2 | 236581132 | missense variant | G/A;C | snv | 1.6E-05; 8.0E-06 | 1 | ||||
rs779515559 | 1 | 154597124 | missense variant | T/C | snv | 1.2E-05 | 1 | ||||
rs16850799 | 1 | 202950723 | intron variant | G/A | snv | 0.20 | 1 | ||||
rs11612414 | 12 | 1722472 | intron variant | G/A | snv | 1.9E-02 | 1 | ||||
rs2058033 | 12 | 1695714 | intron variant | T/G | snv | 0.12 | 1 | ||||
rs558845106 | 8 | 26770370 | missense variant | C/A;T | snv | 3.7E-04 | 1 | ||||
rs761940225 | 8 | 26756573 | 3 prime UTR variant | C/T | snv | 6.3E-06 | 7.0E-06 | 1 | |||
rs753626670 | 4 | 73437179 | synonymous variant | C/T | snv | 8.0E-06 | 1 | ||||
rs149968577 | 6 | 32181364 | stop gained | G/A;C | snv | 1.0E-04 | 1 | ||||
rs1380514442 | 14 | 104780205 | missense variant | T/C | snv | 4.0E-06 | 1 | ||||
rs113866835 | 2 | 29220897 | 3 prime UTR variant | T/C | snv | 3.8E-03 | 1 | ||||
rs1453682751 | 2 | 29193487 | missense variant | C/G | snv | 4.0E-06 | 1 | ||||
rs3738867 | 2 | 29209910 | intron variant | T/C | snv | 3.9E-02 | 9.5E-02 | 1 | |||
rs763078849 | 10 | 37158402 | missense variant | T/A | snv | 4.0E-06 | 1 | ||||
rs1051554521 | 5 | 151128211 | missense variant | G/A | snv | 2.0E-04 | 7.0E-05 | 1 | |||
rs1057519843 | 5 | 112839522 | frameshift variant | AAGATTGGAAC/- | del | 1 | |||||
rs1057519844 | 5 | 112839522 | frameshift variant | AAGATTGGAACTAGGTCAGC/- | del | 1 | |||||
rs1057519845 | 5 | 112839990 | frameshift variant | GGACC/- | del | 1 | |||||
rs1057519846 | 5 | 112840263 | frameshift variant | ATTGATTC/- | del | 1 |