| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 47800544 | missense variant | A/T | snv | 3.9E-04 | 3.5E-04 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 47804943 | missense variant | T/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 47801045 | missense variant | C/A;G | snv | 8.4E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800158 | missense variant | C/G | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 47800037 | missense variant | G/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 47803546 | missense variant | C/G;T | snv | 7.6E-05; 4.0E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800343 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 47800298 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||
|
1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv |
|
0.800 | 1.000 | 11 | 1995 | 2015 | |||||||||
|
1.000 | 0.080 | 3 | 37020399 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||
|
1.000 | 0.080 | 3 | 37028789 | missense variant | G/A;T | snv | 2.4E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | ||||||||
|
1.000 | 0.080 | 3 | 37017518 | missense variant | A/G | snv | 2.5E-04 | 1.3E-04 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||
|
1.000 | 0.080 | 3 | 37047589 | missense variant | A/G | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 |
|
0.810 | 1.000 | 6 | 2014 | 2019 | ||||||||
|
0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 |
|
0.810 | 1.000 | 5 | 2014 | 2019 | ||||||||
|
0.763 | 0.080 | 18 | 48924606 | intron variant | A/G | snv | 0.87 |
|
0.820 | 1.000 | 5 | 2014 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 4259186 | intron variant | T/C | snv | 0.54 |
|
0.810 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.776 | 0.080 | 12 | 4279105 | intron variant | C/T | snv | 8.7E-02 |
|
0.800 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.790 | 0.080 | 11 | 74634505 | intron variant | T/G | snv | 0.40 |
|
0.810 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 47410334 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | |||||||
|
0.776 | 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 |