| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 4 | 54727488 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.200 | 9 | 21974760 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.040 | 1 | 236021631 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 9 | 21806565 | intron variant | G/A | snv | 0.34 |
|
0.710 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
0.851 | 0.080 | 9 | 107947454 | regulatory region variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 11 | 89294875 | intron variant | T/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 9 | 21974761 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 4 | 71777771 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 2 | 222202072 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 3 | 69941240 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 16 | 4681743 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 1 | 199936700 | intergenic variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.240 | 4 | 1806076 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv |
|
0.710 | 1.000 | 1 | 2002 | 2018 | |||||||||
|
0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2014 | 2018 | |||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2002 | 2014 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |