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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 4 | 112427580 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 94007707 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 4 | 16000517 | stop gained | G/T | snv | 2.8E-05 | 8.4E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 8 | 43197027 | splice region variant | -/A | delins | 4.0E-06; 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 1 | 94005490 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 94042790 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 94060712 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 197435404 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1 | 6 | 42722069 | frameshift variant | GCTGGGTC/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 10 | 84258712 | 3 prime UTR variant | -/G | delins | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1 | 11 | 61950428 | splice donor variant | G/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 68448644 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 4 | 15998489 | splice acceptor variant | C/G | snv | 3.0E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 4 | 16023380 | stop gained | G/A;C | snv | 1.7E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 1 | 94098904 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 1.000 | 1 | 94078611 | missense variant | G/C | snv | 8.0E-06 | 8.3E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 1 | 94031027 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 1 | 94030991 | splice region variant | C/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1 | 94042786 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||||
|
2 | 1.000 | 1 | 215674537 | frameshift variant | T/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 10 | 84211139 | frameshift variant | G/- | delins | 6.0E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 3 | 101244651 | stop gained | A/G;T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 20 | 25339350 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 10 | 47348733 | missense variant | C/A;T | snv | 4.0E-06; 3.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 47349721 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |