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 | 5 | 37815827 | missense variant | T/A;C | snv |
|
0.800 | 1.000 | 4 | 1996 | 2000 | ||||||||||
|
1.000 | 5 | 37815654 | missense variant | G/C | snv | 9.9E-05 | 1.0E-04 |
|
0.800 | 1.000 | 4 | 1996 | 2000 | ||||||||
|
0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 |
|
0.710 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 |
|
0.700 | 1.000 | 4 | 1996 | 2000 | |||||||
|
1.000 | 5 | 37834736 | missense variant | G/A | snv | 3.3E-05 | 6.3E-05 |
|
0.700 | 1.000 | 4 | 1996 | 2000 | ||||||||
|
0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 |
|
0.700 | 1.000 | 2 | 1998 | 2010 | |||||||
|
5 | 37840346 | intron variant | G/A | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 5 | 37815763 | missense variant | C/G;T | snv | 4.0E-06 | 1.4E-05 |
|
0.030 | 1.000 | 3 | 2002 | 2017 | |||||||
|
5 | 37823951 | intron variant | C/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 0.080 | 5 | 37814000 | 3 prime UTR variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 37814000 | 3 prime UTR variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 37814000 | 3 prime UTR variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 37814000 | 3 prime UTR variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 37814000 | 3 prime UTR variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 5 | 37815877 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 5 | 37815877 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 5 | 37817242 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 5 | 37817242 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 5 | 37832731 | intron variant | G/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 37832731 | intron variant | G/A | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 37832731 | intron variant | G/A | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 37832731 | intron variant | G/A | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 37832731 | intron variant | G/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 |
|
0.010 | 1.000 | 1 | 1997 | 1997 |