Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200034765 | 10 | 69247416 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 1 | |||
rs1564726619 | 10 | 69232838 | missense variant | G/T | snv | 1 | |||||
rs1563293555 | 8 | 42930130 | missense variant | T/G | snv | 1 | |||||
rs747141054 | 8 | 42973316 | missense variant | G/A | snv | 2.4E-05 | 4.9E-05 | 1 | |||
rs143130309 | 12 | 110163027 | missense variant | C/A;T | snv | 2.0E-05 | 1 | ||||
rs761469100 | 12 | 110128960 | missense variant | C/T | snv | 1.2E-05 | 1 | ||||
rs761191483 | X | 54757697 | stop gained | G/A;C | snv | 5.4E-06 | 1 | ||||
rs376253982 | X | 48966313 | splice region variant | C/A | snv | 2.0E-04 | 2.1E-04 | 1 | |||
rs370433088 | 20 | 62322314 | missense variant | C/T | snv | 1.0E-04 | 1.0E-04 | 1 | |||
rs773956500 | 20 | 62322722 | missense variant | T/C | snv | 4.3E-05 | 2.9E-05 | 1 | |||
rs782144677 | 1 | 147285398 | frameshift variant | A/- | del | 2.8E-05 | 2.1E-05 | 1 | |||
rs1567966432 | 18 | 21383629 | missense variant | T/G | snv | 1 | |||||
rs377314861 | 18 | 21440307 | missense variant | C/T | snv | 6.3E-06 | 1 | ||||
rs1569197778 | X | 55488927 | stop gained | G/A | snv | 1 | |||||
rs1569405174 | X | 110317618 | frameshift variant | G/- | delins | 1 | |||||
rs1469540056 | 22 | 20982433 | missense variant | G/C;T | snv | 5.1E-06 | 1 | ||||
rs559634261 | 1 | 39318497 | missense variant | G/A | snv | 2.0E-05 | 1 | ||||
rs755081350 | 1 | 39485559 | missense variant | G/A | snv | 1.6E-05 | 1 | ||||
rs1568162263 | 17 | 40029767 | missense variant | G/C | snv | 1 | |||||
rs760297650 | 17 | 40022789 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 1 | |||
rs766464011 | 20 | 62333128 | missense variant | G/T | snv | 1.1E-04 | 5.6E-05 | 1 | |||
rs1558553140 | 2 | 42659795 | missense variant | G/A | snv | 1 | |||||
rs1430282035 | 20 | 34996388 | missense variant | G/A | snv | 8.3E-06 | 1 | ||||
rs771172991 | 20 | 34987284 | splice donor variant | AG/- | delins | 5.6E-05 | 1 | ||||
rs1158061584 | 13 | 32443086 | frameshift variant | T/-;TT | delins | 1 |