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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 96265224 | stop gained | C/G;T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 96265174 | missense variant | C/T | snv | 2.0E-04 | 7.2E-04 | 0.700 | 1.000 | 2 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 2 | 96265165 | missense variant | C/G | snv | 3.7E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 2 | 96265399 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 96265379 | start lost | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96265306 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 2 | 96265262 | frameshift variant | ACAG/- | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 2 | 96265232 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 1 | 241512001 | missense variant | G/C;T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 | 0.710 | 1.000 | 1 | 1997 | 1997 | |||
|
2 | 1.000 | 0.040 | 1 | 10365476 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 14 | 65102315 | missense variant | C/A | snv | 8.9E-05 | 7.0E-05 | 0.700 | 1.000 | 6 | 2011 | 2015 | |||
|
3 | 0.925 | 0.040 | 14 | 65102339 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 1 | 156880056 | missense variant | C/T | snv | 6.0E-05 | 7.6E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.850 | 1.000 | 8 | 2002 | 2014 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.820 | 1.000 | 5 | 2005 | 2014 | ||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.740 | 1.000 | 4 | 1997 | 2019 | ||||
|
9 | 0.776 | 0.120 | 10 | 43114491 | missense variant | G/A;T | snv | 4.0E-05; 4.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2017 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.030 | 1.000 | 3 | 2005 | 2012 | |||||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.830 | 0.667 | 3 | 2010 | 2015 | ||||
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2012 | ||||
|
7 | 0.807 | 0.120 | 10 | 43114598 | missense variant | G/C;T | snv | 2.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2018 |