Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 179199003 | missense variant | C/A | snv | 4.4E-05 | 4.2E-05 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
5 | 80626901 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
9 | 21140673 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 21151554 | intergenic variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 11233902 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
2 | 201880120 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 43771130 | missense variant | G/T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 39727880 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
X | 15358134 | missense variant | C/A | snv | 5.5E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 11962338 | 3 prime UTR variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
4 | 102612593 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
8 | 124589710 | missense variant | C/A;G;T | snv | 1.2E-05; 4.1E-06; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 102527789 | synonymous variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
4 | 186550471 | intron variant | T/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 96051770 | intergenic variant | C/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 119809354 | intron variant | T/C | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 108046402 | 3 prime UTR variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 23687168 | missense variant | G/A | snv | 4.1E-05 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
10 | 43119635 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
3 | 108071988 | intron variant | G/T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 111215824 | intron variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 7 | 55067126 | intron variant | A/G | snv | 0.86 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
3 | 12585204 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 4 | 186080138 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 |