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 | 16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 22 | 32484019 | synonymous variant | A/G;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 20649062 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 11 | 233109 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 20 | 31484309 | missense variant | G/A;T | snv | 5.7E-06; 5.7E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 48966681 | synonymous variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 10 | 100989789 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 1 | 20638074 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 12 | 40310461 | missense variant | G/A | snv | 4.4E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | X | 43743818 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 1 | 119140608 | missense variant | A/C;G;T | snv | 3.2E-03; 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 1 | 20645640 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.080 | 14 | 73198076 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 2 | 178799505 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 22 | 32478989 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.040 | 17 | 44352387 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 20633925 | missense variant | A/C;G | snv | 5.3E-06; 3.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | MT | 14598 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.040 | 1 | 20649054 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.030 | 1.000 | 3 | 2006 | 2008 | |||
|
3 | 0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2004 | 2005 | |||||
|
3 | 0.925 | 0.080 | 3 | 184327376 | missense variant | C/T | snv | 4.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 |