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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 12 | 40237989 | missense variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.200 | 9 | 27595997 | intergenic variant | C/T | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 5 | 96979369 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | ||||
|
3 | 0.882 | 0.200 | 17 | 46199252 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.200 | 9 | 132349336 | missense variant | T/C;G | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 17 | 45998697 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 15272936 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.240 | 19 | 17631660 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 74378112 | missense variant | T/C | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.790 | 0.200 | 17 | 46014271 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 17 | 46010395 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.882 | 0.160 | 17 | 46722680 | intron variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.200 | 16 | 81908423 | missense variant | C/G;T | snv | 5.2E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 10 | 95384258 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | ||||
|
5 | 0.851 | 0.200 | 17 | 45971867 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 17 | 46024014 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 45709317 | intron variant | A/G | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 |