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 | 3 | 179199003 | missense variant | C/A | snv | 4.4E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
1 | 5 | 80626901 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 9 | 21140673 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 21151554 | intergenic variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 11233902 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 2 | 201880120 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 6 | 43771130 | missense variant | G/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 17 | 39727880 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | X | 15358134 | missense variant | C/A | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 11962338 | 3 prime UTR variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 4 | 102612593 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 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 | ||||||
|
1 | 11 | 102527789 | synonymous variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 4 | 186550471 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 12 | 96051770 | intergenic variant | C/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 119809354 | intron variant | T/C | snv | 0.91 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 108046402 | 3 prime UTR variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 23687168 | missense variant | G/A | snv | 4.1E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 10 | 43119635 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 3 | 108071988 | intron variant | G/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 111215824 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 7 | 55067126 | intron variant | A/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 3 | 12585204 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 1.000 | 4 | 186080138 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |