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 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 6319476 | missense variant | A/G | snv | 4.2E-06; 0.55 | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 61824185 | intron variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 10297069 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 11558705 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
18 | 75286531 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 39715810 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
12 | 52520269 | missense variant | G/A;C | snv | 8.9E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
17 | 36098180 | regulatory region variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
9 | 90828217 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
16 | 89738216 | missense variant | G/A;C | snv | 1.3E-05; 3.6E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||||
|
9 | 90828077 | intron variant | C/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 138557977 | missense variant | G/A | snv | 6.0E-05 | 2.1E-05 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
7 | 24717583 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
22 | 28695852 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
20 | 44355829 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
8 | 140752306 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
5 | 40887679 | intergenic variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 7670705 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
19 | 35555490 | missense variant | G/A;T | snv | 1.1E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 167024793 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
17 | 7675224 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.875 | 16 | 2001 | 2014 |