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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 43770833 | missense variant | G/A | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
6 | 43771130 | missense variant | G/T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 43771130 | missense variant | G/T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 6 | 43777657 | missense variant | A/G | snv | 7.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 43782078 | missense variant | G/A | snv | 3.6E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 43782078 | missense variant | G/A | snv | 3.6E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 43777618 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 43779840 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 43782006 | missense variant | C/T | snv | 2.8E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 43770888 | missense variant | G/C | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||||
|
6 | 43777513 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 43776884 | non coding transcript exon variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
1.000 | 6 | 43782071 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 43780773 | missense variant | G/A;T | snv | 8.0E-06; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 43782041 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 6 | 43780749 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |