Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs383830 | 0.882 | 0.040 | 5 | 100613278 | intergenic variant | A/T | snv | 0.76 | 3 | ||
rs763802417 | 0.882 | 0.040 | X | 100862805 | missense variant | G/A | snv | 5.9E-06 | 5 | ||
rs2227631 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 13 | ||
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs11053646 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 18 | |
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs679620 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 17 | |
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 32 | |
rs10903323 | 0.807 | 0.160 | 8 | 10292057 | intron variant | A/G | snv | 0.15 | 8 | ||
rs640198 | 0.851 | 0.040 | 11 | 102954362 | intron variant | T/G | snv | 0.68 | 4 | ||
rs974819 | 0.807 | 0.080 | 11 | 103789839 | intron variant | T/A;C | snv | 6 | |||
rs146292819 | 0.790 | 0.240 | 9 | 104794495 | missense variant | T/G | snv | 2.9E-04 | 3.8E-04 | 9 | |
rs1239681664 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 15 | ||
rs4149313 | 0.763 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 9 | |||
rs532997003 | 0.882 | 0.040 | 9 | 104840464 | missense variant | T/C | snv | 2.0E-05 | 3 | ||
rs9282541 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 13 | |
rs2230806 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 24 | |
rs2288904 | 0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 | 8 | |
rs9797861 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 9 | |||
rs342293 | 0.882 | 0.040 | 7 | 106731773 | intron variant | C/G | snv | 0.42 | 7 | ||
rs189037 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 22 |