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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
27 | 0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 85980619 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
16 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.080 | 11 | 117309175 | intron variant | C/T | snv | 0.52 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
11 | 0.752 | 0.280 | 15 | 51215771 | missense variant | G/A | snv | 7.6E-02 | 8.0E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 10 | 66104846 | intron variant | A/G | snv | 0.26 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.160 | 17 | 30196708 | 3 prime UTR variant | G/T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 19 | 44908729 | missense variant | G/A;C;T | snv | 6.3E-06; 6.3E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.080 | 6 | 41159841 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 17 | 45991503 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 19 | 44908847 | missense variant | C/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.060 | 0.500 | 6 | 2005 | 2015 | |||
|
1 | 1.000 | 0.080 | 11 | 1754930 | missense variant | G/A | snv | 7.0E-06 | 0.040 | 0.500 | 4 | 2004 | 2015 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 21 | 26022019 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2006 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 0.500 | 2 | 2004 | 2016 | |||
|
8 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 0.020 | 0.500 | 2 | 2002 | 2010 | |||
|
1 | 1.000 | 0.080 | 2 | 68181905 | intron variant | G/A;T | snv | 0.020 | 0.500 | 2 | 2010 | 2014 | |||||
|
6 | 0.827 | 0.120 | 11 | 27705368 | intron variant | A/G | snv | 0.49 | 0.020 | 0.500 | 2 | 2014 | 2017 | ||||
|
13 | 0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 | 0.020 | 0.500 | 2 | 2007 | 2012 | |||
|
3 | 0.882 | 0.160 | 10 | 92451547 | downstream gene variant | C/A;T | snv | 0.020 | 0.500 | 2 | 2011 | 2015 |