Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397517889 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs397517906 | 0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
rs56816490 | 0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv | 3 | |||
rs56984562 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 3 | |||
rs57508089 | 1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv | 3 | |||
rs61195471 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 3 | |||
rs794728602 | 1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv | 3 | |||
rs267607554 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 2 | |||
rs267607573 | 1.000 | 0.080 | 1 | 156134865 | stop gained | C/T | snv | 2 | |||
rs267607577 | 1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins | 2 | |||||
rs267607618 | 1.000 | 0.080 | 1 | 156136350 | stop gained | C/T | snv | 2 | |||
rs267607646 | 1.000 | 0.080 | 1 | 156115265 | frameshift variant | -/G | delins | 2 | |||
rs28933092 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 2 | |||
rs397517888 | 1.000 | 0.080 | 1 | 156136074 | frameshift variant | -/TGGA | delins | 2 | |||
rs58013325 | 1.000 | 0.080 | 1 | 156137144 | frameshift variant | -/C | delins | 2 | |||
rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs59270054 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 2 | |||
rs59301204 | 0.925 | 0.080 | 1 | 156135956 | missense variant | G/A;C | snv | 1.2E-05 | 2 | ||
rs61046466 | 1.000 | 0.120 | 1 | 156114934 | stop gained | C/T | snv | 2 | |||
rs61444459 | 0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv | 2 | |||
rs794728589 | 1.000 | 0.080 | 1 | 156115275 | splice donor variant | G/A;C | snv | 2 | |||
rs794728591 | 1.000 | 0.080 | 1 | 156134811 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs111569862 | 1 | 156137653 | splice acceptor variant | G/A;C | snv | 1 | |||||
rs267607593 | 1 | 156134964 | missense variant | T/C | snv | 1 | |||||
rs267607594 | 0.925 | 0.120 | 1 | 156130745 | missense variant | T/C | snv | 1 |