Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72010703 | 0.925 | 0.080 | 19 | 29813348 | intron variant | TTAG/-;TTAGTTAG | delins | 2 | |||
rs80357956 | 0.851 | 0.080 | 17 | 43091982 | frameshift variant | TT/- | delins | 3 | |||
rs11471161 | 0.925 | 0.080 | 2 | 74921567 | intron variant | TT/- | delins | 0.42 | 2 | ||
rs796096871 | 0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv | 6 | |||
rs764342874 | 0.882 | 0.240 | 7 | 143263541 | frameshift variant | TCTTCTATGACGTGCTGTC/- | delins | 7.0E-06 | 3 | ||
rs8175347 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 16 | |||
rs868257011 | 0.925 | 0.080 | 10 | 87961042 | frameshift variant | TACTT/- | del | 4 | |||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 118 | ||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 92 | |
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
rs238406 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 23 | |
rs78378222 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 22 | ||
rs6869366 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 18 | ||
rs35866072 | 0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 | 17 | |
rs989902 | 0.742 | 0.240 | 4 | 86785353 | missense variant | T/G | snv | 0.42 | 0.53 | 12 | |
rs10511729 | 0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 | 11 | ||
rs2602141 | 0.790 | 0.120 | 15 | 43432448 | missense variant | T/G | snv | 0.36 | 0.47 | 9 | |
rs17849071 | 0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 | 8 | ||
rs2363956 | 0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 | 8 | |
rs2240688 | 0.790 | 0.160 | 4 | 15968726 | 3 prime UTR variant | T/G | snv | 0.22 | 7 |