| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.917 | 12 | 2003 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 0.857 | 7 | 2012 | 2019 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
1.000 | 0.080 | 1 | 36467843 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 22588916 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 197103274 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.400 | 1 | 35897874 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 3 | 128481887 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 3 | 37298923 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 58123401 | synonymous variant | C/T | snv | 6.8E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.160 | 4 | 99594840 | missense variant | T/C | snv | 4.0E-06 |
|
0.100 | 0.917 | 12 | 2006 | 2018 | ||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.040 | 1.000 | 4 | 2013 | 2018 | ||||||||
|
0.827 | 0.120 | 4 | 54278380 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 4 | 54695598 | missense variant | G/A | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 54729353 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.732 | 0.240 | 4 | 54727298 | missense variant | A/C;G;T | snv | 7.7E-02; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 4 | 99597206 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 5 | 40765164 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |