Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 10 | 70599048 | missense variant | G/A | snv | 1.2E-05 | 0.800 | 1.000 | 11 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 70598435 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2001 | ||||
|
1 | 1.000 | 0.040 | 10 | 70598885 | missense variant | C/T | snv | 2.0E-05 | 0.800 | 1.000 | 2 | 1999 | 2001 | ||||
|
1 | 1.000 | 0.040 | 10 | 70599173 | missense variant | A/C | snv | 0.800 | 1.000 | 2 | 1999 | 2001 | |||||
|
1 | 1.000 | 0.040 | 10 | 70598687 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2001 | ||||
|
2 | 0.925 | 0.040 | 10 | 70598372 | missense variant | G/A | snv | 2.8E-05 | 0.700 | 1.000 | 11 | 2005 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 70600853 | frameshift variant | A/- | del | 2.4E-04 | 9.8E-04 | 0.700 | 1.000 | 6 | 1999 | 2013 | |||
|
2 | 1.000 | 0.040 | 10 | 70600458 | missense variant | C/T | snv | 1.4E-04 | 7.0E-05 | 0.700 | 1.000 | 5 | 1989 | 2011 | |||
|
1 | 1.000 | 0.040 | 10 | 70598411 | missense variant | G/A | snv | 7.3E-04 | 7.3E-04 | 0.700 | 1.000 | 4 | 2011 | 2017 | |||
|
4 | 0.882 | 0.160 | 10 | 70598966 | missense variant | T/C | snv | 5.0E-03 | 7.5E-03 | 0.700 | 1.000 | 2 | 1999 | 2001 | |||
|
1 | 1.000 | 0.040 | 10 | 70600755 | missense variant | C/G;T | snv | 4.8E-05 | 0.700 | 1.000 | 2 | 1999 | 2001 | ||||
|
2 | 0.925 | 0.160 | 5 | 38511872 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 10 | 70598599 | stop gained | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 10 | 70600713 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 10 | 70598601 | missense variant | A/C;G | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 10 | 70598546 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 70598336 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 70598475 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 10 | 70598417 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 10 | 70598384 | missense variant | T/G | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 10 | 70599055 | missense variant | G/T | snv | 3.6E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 10 | 70598640 | missense variant | T/A | snv | 8.1E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.040 | 10 | 70600517 | missense variant | C/G | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 10 | 70598630 | frameshift variant | AG/- | del | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 10 | 70600696 | frameshift variant | G/- | delins | 7.0E-06 | 0.700 | 0 |