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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.160 | 11 | 119095811 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.120 | 11 | 108244860 | synonymous variant | C/G;T | snv | 1.1E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 1.000 | 0.040 | 4 | 77586643 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1 | 113823812 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 1 | 113814041 | 3 prime UTR variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.120 | 15 | 40105735 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 11 | 119099986 | intron variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.120 | 4 | 88144923 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.120 | 3 | 9750336 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.080 | 12 | 120222977 | missense variant | C/G;T | snv | 5.4E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.240 | 11 | 118001371 | 3 prime UTR variant | G/A;T | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 |