| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 |
|
0.800 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.730 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.776 | 0.080 | 12 | 4279105 | intron variant | C/T | snv | 8.7E-02 |
|
0.800 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 4 | 2002 | 2019 | |||||||
|
0.790 | 0.080 | 11 | 74634505 | intron variant | T/G | snv | 0.40 |
|
0.810 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 4 | 2005 | 2010 | |||||||
|
1.000 | 0.080 | 2 | 47410334 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | |||||||
|
0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2005 | 2009 | ||||||||
|
0.776 | 0.080 | 20 | 48723580 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 47403229 | missense variant | G/A;T | snv | 1.4E-05 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | ||||||||
|
1.000 | 0.080 | 2 | 47475121 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | ||||||||
|
0.882 | 0.160 | 2 | 47429920 | stop gained | C/A;G;T | snv | 5.5E-04; 4.0E-06 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | ||||||||
|
0.925 | 0.160 | 2 | 47466663 | missense variant | G/T | snv |
|
0.700 | 1.000 | 4 | 1998 | 2005 | |||||||||
|
0.925 | 0.160 | 2 | 47410232 | missense variant | A/G | snv | 4.7E-04 | 1.3E-04 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | |||||||
|
0.776 | 0.080 | 5 | 135163402 | intron variant | C/A | snv | 0.63 |
|
0.820 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 |
|
0.860 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 |
|
0.840 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.776 | 0.080 | 17 | 10803924 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 10 | 99591947 | intergenic variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 |
|
0.720 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 |
|
0.900 | 1.000 | 3 | 2007 | 2018 | ||||||||
|
0.776 | 0.080 | 15 | 32700910 | downstream gene variant | C/T | snv | 0.11 |
|
0.720 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.810 | 1.000 | 3 | 2014 | 2018 |