Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557315928 | X | 32380517 | stop gained | C/T | snv | 4 | |||||
rs1557194525 | 1.000 | 0.120 | X | 154420961 | frameshift variant | C/- | del | 3 | |||
rs387907218 | 1.000 | 0.120 | X | 154420676 | missense variant | G/A;C | snv | 2 | |||
rs727504327 | 1.000 | 0.120 | X | 154413544 | missense variant | G/A | snv | 2 | |||
rs727504394 | 1.000 | 0.120 | X | 154420666 | frameshift variant | TG/- | delins | 2 | |||
rs727504431 | 1.000 | 0.120 | X | 154420212 | missense variant | G/T | snv | 2 | |||
rs727504597 | 1.000 | 0.160 | X | 120441803 | frameshift variant | A/- | del | 2 | |||
rs104894942 | 1.000 | 0.120 | X | 154413248 | missense variant | C/A;T | snv | 1 | |||
rs397515750 | X | 154420948 | stop gained | C/T | snv | 1 | |||||
rs727504557 | X | 120441824 | frameshift variant | T/- | delins | 1 | |||||
rs749838192 | 22 | 50524395 | frameshift variant | -/TGAGTCACTGCTGCATGCT | ins | 5.8E-04; 4.2E-06 | 8.9E-04 | 1 | |||
rs747321794 | 21 | 34449462 | missense variant | G/A | snv | 2.8E-05 | 1 | ||||
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 42 | ||
rs1114167453 | 1.000 | 19 | 45385569 | stop gained | G/C | snv | 4 | ||||
rs397516352 | 19 | 55154115 | missense variant | A/G | snv | 1 | |||||
rs397516355 | 19 | 55154035 | stop gained | C/A;T | snv | 1 | |||||
rs397516356 | 19 | 55151917 | missense variant | C/T | snv | 1 | |||||
rs397516706 | 0.925 | 0.080 | 18 | 31546441 | frameshift variant | AGAG/-;AG | delins | 4 | |||
rs758537946 | 18 | 31531044 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |||
rs104894655 | 0.925 | 0.120 | 17 | 39665762 | stop gained | C/T | snv | 1.4E-05 | 3 | ||
rs199476317 | 0.827 | 0.080 | 15 | 63062263 | missense variant | G/A | snv | 4 | |||
rs397516373 | 0.925 | 0.080 | 15 | 63059663 | missense variant | G/A | snv | 4 | |||
rs397516369 | 1.000 | 15 | 63057081 | missense variant | C/G | snv | 2 | ||||
rs397517065 | 15 | 34792471 | missense variant | G/A | snv | 2 | |||||
rs397517071 | 1.000 | 0.040 | 15 | 34792092 | missense variant | A/G | snv | 2 |