| 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 | 0.160 | 7 | 102028117 | missense variant | C/G | snv | 2.8E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.240 | 14 | 102799329 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 14 | 104780148 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.160 | 13 | 108204435 | downstream gene variant | C/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 7 | 108670542 | intergenic variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.080 | 0.750 | 8 | 2003 | 2019 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.070 | 1.000 | 7 | 2000 | 2019 | |||||||
|
0.851 | 0.280 | 11 | 117994131 | missense variant | A/C;G | snv | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.280 | 8 | 127180736 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.070 | 0.857 | 7 | 2003 | 2019 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.770 | 0.875 | 7 | 2003 | 2019 | ||||||||
|
0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.160 | 2 | 140841050 | missense variant | C/T | snv | 4.8E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.160 | 2 | 140846426 | intron variant | G/A | snv | 5.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.160 | 6 | 151208234 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.160 | 1 | 15504663 | synonymous variant | G/A | snv | 4.4E-05 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |