Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 30 | |||
rs386834061 | 0.925 | 0.360 | 8 | 99868312 | stop gained | C/T | snv | 2.1E-05 | 10 | ||
rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
rs397515360 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 8 | ||
rs752914124 | 0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del | 8 | |||
rs886039794 | 0.851 | 0.480 | 8 | 85109594 | splice acceptor variant | G/C | snv | 8 | |||
rs137853006 | 0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv | 6 | |||
rs1052954321 | 0.882 | 4 | 112427580 | missense variant | C/T | snv | 5 | ||||
rs386834261 | 0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 | 5 | ||
rs1057518802 | 0.882 | 0.080 | 21 | 45509554 | stop gained | C/T | snv | 4 | |||
rs1555302200 | 0.925 | 0.120 | 14 | 21326029 | frameshift variant | -/TT | delins | 4 | |||
rs104894927 | 0.882 | 0.080 | X | 46853731 | stop gained | C/T | snv | 3 | |||
rs61750173 | 0.827 | 0.080 | 17 | 8014701 | missense variant | G/A | snv | 3 | |||
rs764759172 | 0.925 | 0.040 | 1 | 94080692 | frameshift variant | G/- | del | 3 | |||
rs778234759 | 0.925 | 0.040 | 1 | 94018445 | intron variant | C/T | snv | 1.3E-04 | 3 | ||
rs866395428 | 1.000 | 0.040 | 6 | 79493633 | stop gained | G/A | snv | 3 | |||
rs878853410 | 0.925 | 0.200 | 1 | 216321969 | frameshift variant | A/- | del | 3 | |||
rs121434491 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 2 | |||
rs1553186896 | 1.000 | 1 | 94005490 | missense variant | A/C;G | snv | 2 | ||||
rs1553192726 | 1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv | 2 | |||
rs1553193813 | 1.000 | 0.080 | 1 | 94077747 | stop gained | C/T | snv | 2 | |||
rs1554269053 | 1.000 | 0.080 | 6 | 42704529 | missense variant | A/G | snv | 2 | |||
rs1555955061 | X | 85965588 | intron variant | T/C | snv | 2 | |||||
rs1556300621 | X | 107645286 | missense variant | C/T | snv | 2 |