| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 3 | 58138491 | missense variant | G/A | snv |
|
0.820 | 1.000 | 4 | 2004 | 2017 | |||||||||
|
0.925 | 0.080 | 3 | 58077235 | missense variant | T/G | snv |
|
0.800 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58081668 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58136063 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
1.000 | 0.080 | 3 | 58077271 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.080 | 3 | 58078779 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.080 | 3 | 58078779 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.160 | 3 | 58081692 | missense variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.080 | 3 | 58109627 | missense variant | G/C | snv |
|
0.800 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.160 | 3 | 58077265 | missense variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.160 | 3 | 58077255 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58081689 | missense variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58097911 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58097918 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58130810 | missense variant | T/G | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58136082 | missense variant | T/A | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58136115 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.080 | 3 | 58145995 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
3 | 58120049 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 58120049 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 58008671 | missense variant | G/A;T | snv | 5.6E-04; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 58051235 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 58051208 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 3 | 58108461 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
3 | 58051084 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |