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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 5 | 76625147 | intron variant | A/G | snv | 0.65 | 0.810 | 1.000 | 2 | 2010 | 2016 | ||||||
|
18 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.800 | 0.900 | 10 | 2004 | 2017 | ||||
|
8 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 0.740 | 0.833 | 6 | 2001 | 2012 | ||||
|
12 | 0.752 | 0.280 | 13 | 20189031 | missense variant | C/G;T | snv | 6.0E-05 | 0.730 | 0.667 | 3 | 2010 | 2017 | ||||
|
5 | 0.882 | 0.200 | 13 | 20189359 | missense variant | G/A;C | snv | 0.720 | 1.000 | 2 | 2000 | 2001 | |||||
|
32 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 0.720 | 1.000 | 2 | 2005 | 2007 | |||
|
12 | 0.763 | 0.280 | 13 | 20189155 | missense variant | G/A | snv | 1.2E-04 | 2.0E-04 | 0.720 | 1.000 | 2 | 2005 | 2019 | |||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.710 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.120 | 13 | 20189450 | stop gained | C/G;T | snv | 2.8E-05 | 0.710 | 1.000 | 1 | 2001 | 2001 | ||||
|
4 | 0.882 | 0.240 | 10 | 71570884 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.120 | 13 | 20189212 | stop gained | G/A | snv | 8.4E-05 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 13 | 20189526 | missense variant | C/A;G | snv | 2.8E-05; 1.2E-05 | 0.710 | 1.000 | 1 | 2005 | 2005 | ||||
|
7 | 0.925 | 0.160 | 15 | 72347711 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.882 | 0.160 | 15 | 72345477 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 1992 | 1992 | |||
|
6 | 0.925 | 0.160 | 15 | 72353130 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.080 | 11 | 2445213 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 21 | 42736981 | intron variant | T/A;G | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 20 | 18726094 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 5 | 127216040 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.925 | 0.160 | 15 | 72344139 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.120 | 13 | 20189332 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05; 4.0E-06 | 0.700 | 0 |