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 | 0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.882 | 0.160 | 11 | 6393301 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 10 | 69368539 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
8 | 0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 |