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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 8 | 119032590 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2017 | |||||||
|
1 | X | 31348599 | missense variant | T/A | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | X | 32365095 | missense variant | T/A | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
32 | 0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 5 | 132256377 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.080 | 11 | 61959539 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 1.000 | 0.040 | 7 | 121329715 | missense variant | G/A;T | snv | 0.44; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 5 | 132257177 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 0.925 | 0.160 | 7 | 94431047 | 3 prime UTR variant | -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC | ins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 4 | 1002377 | missense variant | G/A;C | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 7 | 94412666 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.080 | 3 | 169253443 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | X | 32644215 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 0.667 | 3 | 2005 | 2014 | |||
|
4 | 0.925 | 0.120 | 11 | 27391119 | stop gained | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 5 | 132258479 | intron variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 11 | 46883767 | intron variant | A/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.080 | 8 | 118951777 | intron variant | G/A | snv | 7.3E-02 | 9.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
13 | 0.763 | 0.320 | 17 | 50200388 | intron variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.925 | 0.160 | 5 | 126582456 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 |