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 | 1.000 | 0.040 | 1 | 156860987 | missense variant | G/A | snv | 7.5E-03 | 9.4E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.200 | 12 | 100532538 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 7 | 87408071 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.200 | 18 | 49936276 | missense variant | G/A | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 18 | 23535546 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 20 | 10643851 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.827 | 0.080 | 7 | 87426860 | missense variant | T/C;G | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.030 | 0.667 | 3 | 2007 | 2011 | ||||
|
8 | 0.807 | 0.360 | 2 | 218661219 | missense variant | A/G | snv | 4.7E-04 | 4.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
52 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.040 | 7 | 87447080 | missense variant | G/A | snv | 1.6E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
15 | 0.763 | 0.200 | 10 | 58390856 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.040 | 2 | 191009916 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2016 | 2018 |