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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.160 | 11 | 65570699 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 6 | 28606638 | intron variant | T/C | snv | 0.89 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
13 | 0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.030 | 1.000 | 3 | 2002 | 2009 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 0.333 | 3 | 2002 | 2009 | |||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.925 | 0.120 | X | 123912065 | 3 prime UTR variant | C/T | snv | 0.25 | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.120 | X | 123911791 | 3 prime UTR variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 22 | 28796682 | non coding transcript exon variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.807 | 0.280 | 16 | 78432540 | missense variant | C/G | snv | 7.1E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 15 | 42199650 | mature miRNA variant | A/C | snv | 4.4E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.120 | 12 | 47861787 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.120 | 12 | 109109255 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 12 | 109100430 | intron variant | A/G | snv | 1.9E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 37598943 | intron variant | C/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.080 | 2 | 201387816 | missense variant | G/A;T | snv | 0.29; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.120 | 1 | 3682346 | 5 prime UTR variant | C/T | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.070 | 1.000 | 7 | 2003 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 1.000 | 7 | 2003 | 2017 |