Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518834 | X | 32849737 | frameshift variant | C/- | delins | 9 | |||||
rs1557106484 | X | 77633315 | missense variant | C/A | snv | 7 | |||||
rs113331868 | 5 | 150228191 | splice donor variant | C/A;T | snv | 6 | |||||
rs1555358382 | 14 | 54844115 | stop gained | G/A | snv | 6 | |||||
rs724159954 | 21 | 37490353 | frameshift variant | -/A | delins | 6 | |||||
rs724159956 | 21 | 37496249 | frameshift variant | -/G | delins | 6 | |||||
rs724159951 | 21 | 37493101 | missense variant | T/C | snv | 6 | |||||
rs724159952 | 21 | 37490451 | frameshift variant | -/G | delins | 6 | |||||
rs1057518962 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 6 | ||||
rs1057518886 | 11 | 119090043 | frameshift variant | C/- | delins | 5 | |||||
rs879255368 | 19 | 41984953 | missense variant | C/G;T | snv | 5 | |||||
rs1565369746 | 11 | 64297507 | missense variant | C/A | snv | 5 | |||||
rs1189909394 | 11 | 64298178 | missense variant | G/A;C | snv | 7.0E-06 | 5 | ||||
rs1553196096 | 1 | 22086463 | missense variant | G/A | snv | 5 | |||||
rs1557315928 | X | 32380517 | stop gained | C/T | snv | 4 | |||||
rs148292941 | 1 | 161171095 | stop gained | T/C;G | snv | 8.0E-06 | 6.3E-05 | 4 | |||
rs1565569158 | 12 | 6939148 | missense variant | A/G | snv | 4 | |||||
rs1556411578 | X | 108595507 | coding sequence variant | AAGGTGACA/- | delins | 4 | |||||
rs1553510492 | 2 | 161419040 | missense variant | A/G | snv | 4 | |||||
rs1057518874 | 15 | 44598738 | missense variant | C/A | snv | 4 | |||||
rs1554726245 | 9 | 134834982 | inframe deletion | ACGCCGAGG/- | delins | 4 | |||||
rs773690764 | 11 | 68917781 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 4 | |||
rs1555969528 | X | 67545375 | stop gained | C/T | snv | 4 | |||||
rs879253742 | X | 71111493 | missense variant | A/G | snv | 4 | |||||
rs1554139771 | 5 | 88804732 | stop gained | CA/- | delins | 3 |