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 | 0.925 | 0.160 | 10 | 102604895 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 8 | 103325139 | missense variant | A/C;G | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.160 | 6 | 10400802 | intron variant | AGA/- | delins | 6.8E-02 | 6.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 4 | 109539620 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 112981742 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
2 | 1.000 | 0.080 | 10 | 113138334 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1 | 115663802 | missense variant | G/A;C | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 1 | 115663998 | missense variant | G/A | snv | 2.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 1 | 115682372 | missense variant | G/A | snv | 2.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 115684037 | missense variant | A/C;G | snv | 4.0E-03; 4.0E-06 | 1.7E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
1 | 1 | 115691354 | missense variant | G/A;T | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
7 | 0.807 | 0.320 | 1 | 11790870 | missense variant | C/T | snv | 5.6E-02 | 4.2E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.667 | 21 | 1999 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.882 | 68 | 1997 | 2019 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.060 | 1.000 | 6 | 2012 | 2019 | |||
|
1 | 3 | 126131258 | intron variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 126131662 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 126155545 | non coding transcript exon variant | C/T | snv | 0.83 | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 7 | 128252927 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 19 | 12940603 | missense variant | A/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 10 | 133297344 | missense variant | G/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 10 | 133297981 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 9 | 133671511 | intron variant | G/A;C | snv | 0.53; 1.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 9 | 133694338 | missense variant | C/G;T | snv | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 |