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 | 0.080 | 12 | 32850771 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 1 | 236739384 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 3 | 192143732 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 11 | 118152652 | missense variant | C/T | snv | 4.1E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 3 | 192144109 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 3 | 38557248 | missense variant | C/A | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 6 | 7580307 | missense variant | A/G | snv | 6.8E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 3 | 192402184 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 2587631 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.851 | 0.080 | 12 | 114357638 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 192359428 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 16 | 54420064 | intergenic variant | A/G;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 4 | 113341742 | missense variant | A/C | snv | 7.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 20 | 58905388 | synonymous variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.080 | 6 | 7574084 | splice region variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23424867 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 17 | 70175263 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2006 | 2007 | |||||
|
3 | 0.882 | 0.120 | 7 | 150950311 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.120 | 7 | 150951514 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.120 | 7 | 150951512 | missense variant | G/A;C;T | snv | 9.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.120 | 3 | 38557251 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 3 | 38630342 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 12 | 32896556 | missense variant | T/A | snv | 6.0E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.120 | 15 | 29761670 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 12 | 32878984 | frameshift variant | TGTA/- | del | 0.700 | 0 |