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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||
|
11 | 0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
7 | 0.807 | 0.160 | 7 | 80677034 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.160 | 1 | 45332409 | missense variant | A/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.160 | 1 | 45333449 | stop gained | G/A;T | snv | 1.4E-03; 1.2E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 5 | 112767314 | missense variant | G/T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.120 | 9 | 98831947 | missense variant | G/A | snv | 1.2E-03 | 1.3E-03 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 16 | 2040004 | stop gained | G/A | snv | 1.8E-04 | 2.5E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 1 | 45331209 | synonymous variant | G/A | snv | 2.9E-03 | 8.7E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
13 | 0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
12 | 0.752 | 0.320 | 7 | 80615623 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 1 | 45331240 | missense variant | G/T | snv | 2.4E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.080 | 5 | 112827969 | missense variant | T/C | snv | 3.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
7 | 0.851 | 0.200 | 1 | 171107825 | missense variant | G/A | snv | 0.37 | 0.41 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.200 | 2 | 47791097 | missense variant | G/T | snv | 9.4E-04 | 1.5E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.160 | 1 | 45332458 | missense variant | G/A | snv | 6.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.827 | 0.160 | 19 | 50406456 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 2 | 47463080 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 5 | 112837797 | missense variant | G/C | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.160 | 1 | 45332443 | missense variant | C/A;T | snv | 5.6E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 1.000 | 0.040 | 5 | 112842342 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |