Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs766356689 | 1.000 | 0.120 | 8 | 42316740 | missense variant | A/C;G | snv | 4.0E-05; 4.0E-06 | 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 | |||
rs1719217 | 1.000 | 0.120 | 17 | 36080352 | intron variant | T/A;G | snv | 1 | |||
rs989461497 | 1.000 | 0.120 | 10 | 101799396 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs34309238 | 1.000 | 0.120 | 19 | 14464085 | missense variant | C/A;T | snv | 4.9E-03; 4.0E-06 | 1 | ||
rs142836504 | 1.000 | 0.120 | 4 | 101098491 | missense variant | C/T | snv | 2.4E-04 | 8.4E-05 | 1 | |
rs1481868107 | 1.000 | 0.120 | 11 | 65654980 | missense variant | T/C | snv | 1 | |||
rs770882250 | 1.000 | 0.120 | 11 | 65655757 | missense variant | T/C | snv | 2.4E-05 | 7.0E-06 | 1 | |
rs866832054 | 1.000 | 0.120 | 5 | 179820971 | missense variant | G/A | snv | 1 | |||
rs118203958 | 1.000 | 0.120 | 15 | 74190889 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs118203959 | 1.000 | 0.120 | 15 | 74180121 | missense variant | G/A | snv | 1.6E-05 | 1 | ||
rs118203960 | 1.000 | 0.120 | 15 | 74180153 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 1 | |
rs118203961 | 1.000 | 0.120 | 15 | 74196145 | missense variant | G/A | snv | 1 | |||
rs118203962 | 1.000 | 0.120 | 15 | 74189244 | missense variant | T/G | snv | 5.4E-04 | 4.1E-04 | 1 | |
rs144691445 | 1.000 | 0.120 | 15 | 74180171 | missense variant | C/A;G;T | snv | 1.6E-05 | 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 | |||
rs267607096 | 1.000 | 0.120 | 15 | 74202199 | stop gained | C/T | snv | 5.6E-06 | 1 | ||
rs397514638 | 1.000 | 0.120 | 15 | 74181301 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs397514639 | 1.000 | 0.120 | 15 | 74180120 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 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 | |||
rs606231126 | 1.000 | 0.120 | 15 | 74202216 | frameshift variant | AGT/GG | delins | 1.6E-05 | 1 |