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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2006 | 2018 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.240 | 12 | 109591301 | missense variant | C/G;T | snv | 1.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 12 | 109595148 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1 | 1535766 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
10 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 6 | 1610761 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 9 | 21971116 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
1 | 12 | 32740421 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 3 | 11013652 | 5 prime UTR variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2008 | |||
|
4 | 0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.080 | 11 | 68357802 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.851 | 0.120 | 10 | 87057692 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 17 | 63496977 | missense variant | C/T | snv | 3.7E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.040 | 1.000 | 4 | 2013 | 2019 | |||||
|
13 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |