Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397518481 | 0.925 | 0.120 | 3 | 25501230 | stop gained | C/G;T | snv | 2 | |||
rs9854771 | 0.925 | 0.240 | 3 | 189790682 | intron variant | G/A | snv | 0.34 | 2 | ||
rs118203961 | 1.000 | 0.120 | 15 | 74196145 | missense variant | G/A | snv | 1 | |||
rs1228616597 | 1.000 | 0.120 | 14 | 105168394 | frameshift variant | A/- | delins | 1 | |||
rs1315916121 | 1.000 | 0.120 | 14 | 105168390 | frameshift variant | G/- | delins | 1 | |||
rs1430937516 | 1.000 | 0.120 | 7 | 76510939 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs1481868107 | 1.000 | 0.120 | 11 | 65654980 | missense variant | T/C | snv | 1 | |||
rs1555457882 | 1.000 | 0.120 | 15 | 74202151 | splice region variant | TT/- | del | 1 | |||
rs1555457919 | 1.000 | 0.120 | 15 | 74202231 | frameshift variant | -/G;GG | delins | 1 | |||
rs1567177198 | 1.000 | 0.120 | 15 | 74181302 | frameshift variant | -/A | delins | 1 | |||
rs1719217 | 1.000 | 0.120 | 17 | 36080352 | intron variant | T/A;G | snv | 1 | |||
rs397518484 | 1.000 | 0.120 | 15 | 74181459 | splice acceptor variant | C/T | snv | 7.0E-06 | 1 | ||
rs606231125 | 1.000 | 0.120 | 15 | 74197785 | frameshift variant | G/- | delins | 1 | |||
rs7779540 | 1.000 | 0.120 | 7 | 153925577 | intron variant | G/A | snv | 6.7E-02 | 1 | ||
rs866832054 | 1.000 | 0.120 | 5 | 179820971 | missense variant | G/A | snv | 1 | |||
rs989461497 | 1.000 | 0.120 | 10 | 101799396 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs118203958 | 1.000 | 0.120 | 15 | 74190889 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs397514639 | 1.000 | 0.120 | 15 | 74180120 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
rs774207364 | 1.000 | 0.120 | 12 | 861184 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs1430452530 | 0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs766356689 | 1.000 | 0.120 | 8 | 42316740 | missense variant | A/C;G | snv | 4.0E-05; 4.0E-06 | 1 | ||
rs606231127 | 1.000 | 0.120 | 15 | 74195371 | frameshift variant | -/C | delins | 4.0E-06; 8.0E-06; 4.0E-06 | 1 | ||
rs191544901 | 0.925 | 0.240 | 1 | 155187241 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs397514638 | 1.000 | 0.120 | 15 | 74181301 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs34309238 | 1.000 | 0.120 | 19 | 14464085 | missense variant | C/A;T | snv | 4.9E-03; 4.0E-06 | 1 |