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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 1999 | 2018 | ||||
|
3 | 0.882 | 0.120 | 6 | 161973401 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.200 | 17 | 46199252 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.120 | 17 | 46010395 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.120 | 6 | 161386823 | missense variant | C/G;T | snv | 0.16; 3.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.763 | 0.280 | 12 | 117330794 | synonymous variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.860 | 1.000 | 8 | 2010 | 2019 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.200 | 3 | 39481512 | intron variant | T/C | snv | 0.76 | 0.830 | 1.000 | 4 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.240 | 12 | 21304500 | missense variant | T/G | snv | 4.5E-02 | 4.4E-02 | 0.810 | 1.000 | 2 | 2011 | 2012 | |||
|
3 | 0.925 | 0.120 | 1 | 180993146 | intron variant | A/G | snv | 0.56 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
11 | 0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 | 0.810 | 1.000 | 2 | 2011 | 2018 | ||||
|
7 | 0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
38 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 10 | 42845657 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.790 | 0.200 | 17 | 46014271 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 2 | 86817193 | intron variant | G/A | snv | 0.83 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 4 | 122557561 | intergenic variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 2 | 88595833 | non coding transcript exon variant | T/C | snv | 0.70 | 0.77 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.030 | 1.000 | 3 | 2012 | 2019 | ||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 2014 | 2018 | |||||
|
3 | 0.882 | 0.200 | 17 | 44351429 | missense variant | C/T | snv | 1.6E-05 | 1.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.200 | 9 | 35067913 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 96979369 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |