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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 19 | 46755527 | stop gained | G/A;T | snv | 8.4E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 46756486 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 46756528 | missense variant | G/A;C | snv | 4.6E-06; 4.6E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 46756125 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 19 | 46756420 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.830 | 1.000 | 12 | 2001 | 2018 | ||||
|
3 | 0.882 | 0.160 | 19 | 46756369 | missense variant | T/A | snv | 6.3E-06 | 1.4E-05 | 0.800 | 1.000 | 11 | 2001 | 2018 | |||
|
6 | 0.827 | 0.160 | 19 | 46755995 | missense variant | A/G;T | snv | 8.2E-05; 6.8E-06 | 0.800 | 1.000 | 9 | 2001 | 2018 | ||||
|
2 | 0.925 | 0.160 | 19 | 46756349 | missense variant | T/C | snv | 6.4E-06 | 4.2E-05 | 0.800 | 1.000 | 8 | 2001 | 2018 | |||
|
1 | 1.000 | 0.120 | 19 | 46756834 | missense variant | C/T | snv | 9.0E-06 | 1.4E-05 | 0.800 | 1.000 | 8 | 2001 | 2018 | |||
|
1 | 1.000 | 0.120 | 19 | 46755685 | missense variant | G/A | snv | 1.0E-03 | 4.3E-03 | 0.700 | 1.000 | 6 | 2001 | 2018 | |||
|
1 | 1.000 | 0.120 | 19 | 46755850 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2001 | 2018 | |||||
|
1 | 1.000 | 0.120 | 19 | 46756523 | missense variant | C/T | snv | 1.4E-04 | 1.0E-04 | 0.700 | 1.000 | 6 | 2001 | 2018 | |||
|
1 | 1.000 | 0.120 | 19 | 46756466 | missense variant | G/A;C;T | snv | 5.2E-06 | 0.700 | 1.000 | 6 | 2001 | 2018 | ||||
|
1 | 1.000 | 0.120 | 19 | 46756396 | missense variant | C/A;T | snv | 6.0E-06 | 0.700 | 1.000 | 6 | 2001 | 2018 | ||||
|
1 | 1.000 | 0.120 | 19 | 46755610 | missense variant | C/G;T | snv | 8.6E-06; 4.3E-06 | 0.800 | 1.000 | 6 | 2001 | 2018 | ||||
|
2 | 0.925 | 0.160 | 19 | 46755610 | frameshift variant | -/GGAG | delins | 0.700 | 1.000 | 2 | 2001 | 2008 | |||||
|
1 | 1.000 | 0.120 | 19 | 46756378 | stop gained | G/C;T | snv | 4.4E-05; 2.5E-05 | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||
|
3 | 0.882 | 0.160 | 19 | 46756814 | missense variant | C/A;T | snv | 4.5E-06 | 0.700 | 1.000 | 8 | 2004 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 46756925 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 19 | 46756617 | frameshift variant | CG/- | delins | 8.2E-06 | 0.700 | 1.000 | 3 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.160 | 19 | 46755716 | missense variant | C/T | snv | 1.5E-05 | 0.700 | 1.000 | 4 | 2006 | 2009 | ||||
|
1 | 1.000 | 0.120 | 19 | 46756883 | missense variant | T/C | snv | 4.1E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2009 | |||
|
1 | 1.000 | 0.120 | 19 | 46756391 | missense variant | C/A;T | snv | 6.1E-06 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 19 | 46756004 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 1 | 2013 | 2013 |