| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | X | 100662227 | missense variant | A/C | snv | 3.3E-05 | 2.9E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.040 | 12 | 13608760 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.200 | 7 | 87504324 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
2 | 231116063 | intron variant | A/C;G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.200 | 14 | 80204392 | intron variant | A/C;G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.120 | X | 53432410 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | X | 48901944 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 14 | 50269297 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
X | 107905581 | missense variant | A/G | snv | 1.3E-03 | 1.6E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.200 | X | 70452622 | start lost | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.160 | 2 | 86166521 | missense variant | A/G | snv | 8.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 1 | 22086451 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.200 | X | 30720721 | missense variant | A/G;T | snv | 5.4E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
21 | 21286370 | missense variant | A/G;T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.240 | X | 111194402 | missense variant | C/A | snv |
|
0.020 | 1.000 | 2 | 2003 | 2020 | |||||||||
|
0.882 | 0.160 | 10 | 73842486 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.160 | 7 | 44220165 | missense variant | C/A;G;T | snv | 2.6E-04; 5.8E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 212961166 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05; 3.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.280 | 12 | 102852875 | missense variant | C/A;G;T | snv | 2.2E-04 |
|
0.010 | 1.000 | 1 | 1991 | 1991 | ||||||||
|
0.851 | 0.240 | 15 | 89323504 | missense variant | C/A;T | snv | 8.0E-06; 9.7E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.240 | 16 | 2081646 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 |