| 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 | |||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.040 | 1.000 | 4 | 2003 | 2015 | |||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.100 | 0.929 | 14 | 2005 | 2018 | ||||||||
|
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 | |||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||
|
0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
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 | |||||||||
|
0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
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 | |||||||||
|
0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv |
|
0.820 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.160 | 21 | 43094667 | missense variant | T/C;G | snv | 2.4E-05; 2.4E-05 |
|
0.710 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
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 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2012 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 0.667 | 3 | 2012 | 2015 |