Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs875989883 | 0.851 | 0.280 | X | 22219070 | missense variant | G/A;C | snv | 9 | |||
rs11646213 | 0.827 | 0.320 | 16 | 82609046 | intergenic variant | A/T | snv | 0.47 | 6 | ||
rs121909800 | 0.807 | 0.360 | 12 | 47844859 | missense variant | G/A;T | snv | 6 | |||
rs121909796 | 0.827 | 0.200 | 12 | 47846743 | missense variant | C/A | snv | 5 | |||
rs116548533 | 0.851 | 0.280 | 20 | 54159083 | missense variant | C/A;T | snv | 4.0E-06; 4.2E-04 | 4 | ||
rs797044787 | 0.851 | 0.240 | X | 153870123 | synonymous variant | G/A | snv | 4 | |||
rs139280106 | 0.851 | 0.280 | 19 | 45032712 | missense variant | C/G;T | snv | 5.9E-05 | 4 | ||
rs780229030 | 0.851 | 0.280 | 19 | 45032710 | missense variant | A/C | snv | 4 | |||
rs377423996 | 0.851 | 0.280 | 12 | 47845002 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs886039584 | 0.882 | 0.200 | X | 22114493 | stop gained | G/A | snv | 3 | |||
rs755686699 | 0.882 | 0.200 | X | 22221653 | stop gained | G/A;T | snv | 5.5E-06 | 3 | ||
rs1064793956 | 1.000 | 0.200 | X | 22090444 | frameshift variant | TC/- | delins | 1 | |||
rs1064796928 | 1.000 | 0.200 | X | 22178377 | splice donor variant | G/A;T | snv | 1 | |||
rs1085308012 | 1.000 | 0.200 | X | 22133586 | missense variant | T/C | snv | 1 | |||
rs1131691731 | 1.000 | 0.200 | X | 22033124 | splice donor variant | G/T | snv | 1 | |||
rs137853268 | 1.000 | 0.200 | X | 22094080 | stop gained | T/A | snv | 1 | |||
rs137853269 | 1.000 | 0.200 | X | 22047116 | missense variant | G/A | snv | 1 | |||
rs1556010757 | 1.000 | 0.200 | X | 22033080 | frameshift variant | -/T | delins | 1 | |||
rs1556012055 | 1.000 | 0.200 | X | 22038466 | splice region variant | C/G | snv | 1 | |||
rs1556012094 | 1.000 | 0.200 | X | 22038536 | splice donor variant | G/- | delins | 1 | |||
rs1556012100 | 1.000 | 0.200 | X | 22038538 | splice donor variant | G/A;T | snv | 1 | |||
rs1556014263 | 1.000 | 0.200 | X | 22047092 | missense variant | G/T | snv | 1 | |||
rs1556014287 | 1.000 | 0.200 | X | 22047115 | missense variant | T/C | snv | 1 | |||
rs1556020460 | 1.000 | 0.200 | X | 22076453 | missense variant | T/A | snv | 1 | |||
rs1556020474 | 1.000 | 0.200 | X | 22076462 | frameshift variant | T/- | del | 1 |