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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.100 | 0.938 | 16 | 2015 | 2020 | |||||
|
3 | 0.925 | 0.080 | 1 | 22912497 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.070 | 1.000 | 7 | 2012 | 2020 | ||||
|
4 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 0.700 | 1.000 | 6 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||
|
6 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 0.720 | 1.000 | 4 | 1995 | 2016 | |||||
|
10 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2014 | 2019 | |||||
|
6 | 0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | G/TTAT | delins | 0.700 | 1.000 | 3 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.080 | 17 | 39724749 | inframe insertion | -/GGCTCCCCA | delins | 0.700 | 1.000 | 3 | 2004 | 2012 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181320 | protein altering variant | -/ACC | delins | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
4 | 0.851 | 0.080 | 15 | 81290798 | intron variant | G/T | snv | 0.30 | 0.030 | 1.000 | 3 | 2016 | 2017 | ||||
|
6 | 0.827 | 0.080 | 19 | 41259690 | missense variant | T/C | snv | 1.6E-05 | 5.6E-05 | 0.030 | 1.000 | 3 | 2016 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2011 | 2018 | |||||
|
7 | 0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 2014 | 2017 | |||||
|
2 | 1.000 | 0.080 | 6 | 117359856 | missense variant | C/T | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 1.000 | 0.080 | 7 | 55174794 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 55174737 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2010 | 2014 | |||||
|
3 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181327 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55174762 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.080 | 9 | 113241753 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
2 | 1.000 | 0.080 | 7 | 87539293 | missense variant | A/G | snv | 6.4E-05 | 1.0E-04 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 3 | 105720182 | synonymous variant | G/A | snv | 0.22 | 0.21 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
1 | 1.000 | 0.080 | 7 | 55181302 | missense variant | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 |