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 | 1.000 | 6 | 30064718 | 3 prime UTR variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 2 | 136115225 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 12 | 6232664 | start lost | A/G | snv | 4.9E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 19 | 41009375 | missense variant | T/C | snv | 7.4E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 2 | 169633213 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 11 | 5680051 | missense variant | G/A | snv | 0.13 | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 1 | 165207796 | intron variant | G/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 2 | 70831099 | missense variant | T/A | snv | 7.0E-02 | 8.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 7 | 29512676 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 7 | 92470377 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
1 | 1.000 | 19 | 40845472 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 2 | 136115158 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 11 | 117661016 | intron variant | C/T | snv | 9.7E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 19 | 39253181 | upstream gene variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.120 | 12 | 21176879 | missense variant | C/A;T | snv | 0.11; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.280 | 19 | 41012316 | missense variant | T/C | snv | 5.1E-03 | 2.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.200 | 3 | 46459778 | missense variant | C/T | snv | 0.34 | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |