Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv | 0.070 | 1.000 | 7 | 2011 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2019 | |||
|
6 | 0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 1 | 59908103 | intron variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 207523640 | missense variant | A/G | snv | 1.6E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
10 | 0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 207587428 | missense variant | C/T | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.080 | 1 | 231694549 | missense variant | G/A | snv | 0.30 | 0.26 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 1 | 54867852 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 226891773 | missense variant | C/G;T | snv | 4.4E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.827 | 0.080 | 1 | 231818355 | missense variant | C/T | snv | 0.11 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.080 | 1 | 207609586 | missense variant | A/G | snv | 0.32 | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
26 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.200 | 1 | 59926822 | upstream gene variant | C/A | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 10345283 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 2 | 127068957 | synonymous variant | A/G | snv | 0.34 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.807 | 0.320 | 2 | 21032408 | missense variant | G/A;C;T | snv | 1.7E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |