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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
2 | 0.925 | 0.120 | 18 | 27952340 | missense variant | T/C | snv | 2.5E-02 | 2.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 13 | 28038749 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 17 | 30211356 | missense variant | T/C;G | snv | 7.4E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.160 | 17 | 30237152 | upstream gene variant | G/A | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 34876494 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 34881321 | intron variant | T/C | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 36655561 | regulatory region variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 36676981 | missense variant | G/C | snv | 2.5E-02 | 1.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 6 | 38393336 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 6 | 38398065 | intron variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
8 | 0.776 | 0.160 | 6 | 38398097 | intron variant | T/C | snv | 0.38 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 0.500 | 2 | 2010 | 2016 | |||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 10 | 49663420 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 15 | 50252520 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 19 | 51815127 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 2 | 58636438 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 58728818 | intron variant | A/G | snv | 0.47 | 0.710 | 1.000 | 2 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.320 | 2 | 61048535 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2005 |