| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 50082788 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||||
|
17 | 7673717 | synonymous variant | T/C | snv | 2.7E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||
|
0.851 | 0.160 | 19 | 45365131 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
15 | 40718847 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 2 | 208248486 | missense variant | T/C | snv | 3.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.120 | X | 48688403 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.160 | 12 | 112489093 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv |
|
0.820 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.020 | 1.000 | 2 | 2005 | 2013 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2005 | 2013 | |||||||||
|
0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 11 | 108259059 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
X | 48793910 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |