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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 21 | 31669690 | upstream gene variant | T/G | snv | 3.9E-02 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||||
|
1 | 4 | 38798831 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 16 | 28585563 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 230709809 | intron variant | G/A | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 14 | 104701619 | missense variant | C/G;T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 9 | 35166766 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 2 | 227283830 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 21 | 31659974 | non coding transcript exon variant | C/T | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 21 | 31720530 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 17 | 63478305 | non coding transcript exon variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 196736919 | missense variant | G/A | snv | 1.4E-03 | 5.5E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 196994083 | missense variant | G/A | snv | 1.1E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 15 | 97659878 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 3015094 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 186076620 | start lost | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 11 | 34470133 | intron variant | G/A | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 27650459 | 3 prime UTR variant | C/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 32702799 | downstream gene variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 17 | 63498748 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 16 | 88651945 | 3 prime UTR variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.060 | 0.667 | 6 | 1999 | 2012 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2009 | 2012 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.909 | 11 | 2007 | 2015 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2004 | 2014 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.030 | 1.000 | 3 | 2001 | 2014 |