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 | 1 | 236482309 | missense variant | C/T | snv | 2.1E-02 | 2.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 1 | 240493497 | intron variant | G/A | snv | 0.21 | 0.17 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 4 | 1805414 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 4 | 5632031 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1.000 | 20 | 6779333 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 1 | 209790735 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 1.000 | 14 | 75978424 | intron variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 2 | 76036546 | intron variant | C/T | snv | 0.96 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 8 | 38419631 | missense variant | C/T | snv | 2.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 4 | 5689210 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 2 | 218890128 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 1 | 209785814 | 3 prime UTR variant | A/G | snv | 7.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 4 | 4860050 | missense variant | A/G | snv | 1.4E-03 | 1.7E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 | 0.020 | 0.500 | 2 | 2010 | 2013 | |||
|
2 | 0.925 | 0.080 | 14 | 36663043 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 4 | 4863211 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 10 | 52313141 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 2 | 218890118 | missense variant | C/A;T | snv | 4.0E-06; 1.9E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 14 | 53952099 | missense variant | C/A;G | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 14 | 36662954 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.080 | 20 | 6779554 | 3 prime UTR variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | X | 70035389 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 4 | 4863149 | 3 prime UTR variant | C/T | snv | 0.22 | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |