Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs151341424 | 0.925 | 0.120 | 15 | 74190856 | missense variant | CC/TT | mnv | 3 | |||
rs11845046 | 1.000 | 0.120 | 14 | 39246997 | missense variant | A/G | snv | 0.22 | 0.20 | 2 | |
rs1374154597 | 1.000 | 0.120 | 3 | 136023097 | frameshift variant | -/G | delins | 2 | |||
rs1569119395 | 0.925 | 0.120 | 22 | 45949926 | stop gained | G/A | snv | 2 | |||
rs397518481 | 0.925 | 0.120 | 3 | 25501230 | stop gained | C/G;T | snv | 2 | |||
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 | |
rs1228616597 | 1.000 | 0.120 | 14 | 105168394 | frameshift variant | A/- | delins | 1 | |||
rs1315916121 | 1.000 | 0.120 | 14 | 105168390 | frameshift variant | G/- | delins | 1 | |||
rs1344011 | 1.000 | 0.120 | 18 | 54937957 | splice region variant | C/T | snv | 0.20 | 0.17 | 1 | |
rs142836504 | 1.000 | 0.120 | 4 | 101098491 | missense variant | C/T | snv | 2.4E-04 | 8.4E-05 | 1 | |
rs1430937516 | 1.000 | 0.120 | 7 | 76510939 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs144691445 | 1.000 | 0.120 | 15 | 74180171 | missense variant | C/A;G;T | snv | 1.6E-05 | 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 | |||
rs183117027 | 1.000 | 0.120 | 2 | 21004340 | missense variant | C/T | snv | 5.1E-04 | 1.9E-04 | 1 | |
rs267607096 | 1.000 | 0.120 | 15 | 74202199 | stop gained | C/T | snv | 5.6E-06 | 1 | ||
rs34309238 | 1.000 | 0.120 | 19 | 14464085 | missense variant | C/A;T | snv | 4.9E-03; 4.0E-06 | 1 | ||
rs397514638 | 1.000 | 0.120 | 15 | 74181301 | missense variant | C/G;T | snv | 4.0E-06 | 1 |