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 | ||
rs2075674 | 1.000 | 0.040 | 7 | 100627408 | synonymous variant | G/A | snv | 0.18 | 0.16 | 2 | |
rs7385804 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 14 | ||
rs7801190 | 1.000 | 0.040 | 7 | 100860471 | non coding transcript exon variant | C/G | snv | 9.9E-02 | 2 | ||
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 | |||
rs8025174 | 1.000 | 0.040 | 15 | 101279548 | upstream gene variant | C/A;T | snv | 1 | |||
rs2288349 | 0.882 | 0.120 | 19 | 10146569 | intron variant | G/A | snv | 0.36 | 0.35 | 5 | |
rs3736234 | 0.851 | 0.040 | 12 | 10160535 | non coding transcript exon variant | G/A | snv | 0.40 | 4 | ||
rs11053646 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 18 | |
rs2228612 | 0.763 | 0.160 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.14 | 12 | ||
rs16999593 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 14 | |
rs10420321 | 0.925 | 0.080 | 19 | 10189741 | intron variant | A/G | snv | 0.11 | 2 | ||
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs1420101 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 8 | |
rs13114738 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 16 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs223469 | 1.000 | 0.040 | 4 | 102778621 | intergenic variant | T/C | snv | 0.99 | 1 | ||
rs12147254 | 0.851 | 0.240 | 14 | 102799329 | intron variant | G/A | snv | 0.23 | 4 | ||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs1004467 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 13 | |
rs4919687 | 0.742 | 0.160 | 10 | 102835491 | non coding transcript exon variant | G/A | snv | 0.25 | 14 | ||
rs3824755 | 0.925 | 0.120 | 10 | 102836092 | intron variant | G/A;C;T | snv | 5 | |||
rs679620 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 17 |