Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555970004 | 0.925 | 0.200 | X | 67546581 | frameshift variant | -/C | delins | 2 | |||
rs1555982894 | 0.925 | 0.160 | X | 67643409 | splice donor variant | T/C | snv | 2 | |||
rs1555990470 | 0.925 | 0.200 | X | 67686046 | missense variant | G/A | snv | 2 | |||
rs1555995822 | 0.925 | 0.200 | X | 67711569 | missense variant | G/A | snv | 2 | |||
rs1555996810 | 0.925 | 0.200 | X | 67717480 | missense variant | T/C | snv | 2 | |||
rs1555996863 | 0.925 | 0.200 | X | 67717600 | missense variant | G/A | snv | 2 | |||
rs1555997580 | 0.925 | 0.200 | X | 67721873 | stop gained | C/T | snv | 2 | |||
rs1555998108 | 0.925 | 0.200 | X | 67723776 | missense variant | A/T | snv | 2 | |||
rs1569263557 | 0.925 | 0.200 | X | 67545341 | stop gained | GCAGC/TT | delins | 2 | |||
rs1569264288 | 0.925 | 0.200 | X | 67545971 | frameshift variant | -/CCGCTGTGCGTCCCAC | delins | 2 | |||
rs1569265331 | 0.925 | 0.200 | X | 67546597 | frameshift variant | CTCG/- | del | 2 | |||
rs1569265470 | 0.925 | 0.200 | X | 67546759 | frameshift variant | -/G | delins | 2 | |||
rs1569314508 | 0.925 | 0.200 | X | 67717623 | splice donor variant | G/C | snv | 2 | |||
rs754201976 | 0.925 | 0.160 | X | 67686088 | missense variant | G/A | snv | 5.5E-06 | 2 | ||
rs864622007 | 0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv | 2 | |||
rs886039558 | 0.925 | 0.200 | X | 67717561 | stop gained | C/T | snv | 2 | |||
rs1057521122 | 1.000 | 0.160 | X | 67722881 | missense variant | A/G | snv | 1 | |||
rs1057523747 | 1.000 | 0.160 | X | 67717562 | missense variant | G/A;T | snv | 1 | |||
rs1199988820 | 1.000 | 0.160 | X | 67545363 | stop gained | C/G;T | snv | 7.3E-05 | 1 | ||
rs1254203917 | 1.000 | 0.160 | X | 67721881 | missense variant | G/T | snv | 5.5E-06 | 1 | ||
rs137852562 | 0.925 | 0.160 | X | 67721837 | missense variant | C/T | snv | 1 | |||
rs137852563 | 1.000 | 0.160 | X | 67711673 | stop gained | G/A | snv | 5.7E-06 | 1 | ||
rs137852566 | 1.000 | 0.160 | X | 67686012 | stop gained | A/T | snv | 1 | |||
rs137852568 | 1.000 | 0.160 | X | 67723728 | stop gained | A/T | snv | 1 | |||
rs137852570 | 1.000 | 0.160 | X | 67721876 | missense variant | A/G | snv | 1 |