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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 4 | 67919056 | missense variant | T/A;C;G | snv | 0.67 | 0.020 | 1.000 | 2 | 2006 | 2013 | ||||
|
3 | 0.925 | 0.080 | 4 | 125491736 | missense variant | C/T | snv | 4.9E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 4 | 125318831 | missense variant | C/G;T | snv | 4.0E-06; 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 17356224 | intron variant | A/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.080 | 10 | 94308190 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 109512654 | intergenic variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 19 | 582982 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.080 | 1 | 153615864 | splice region variant | C/T | snv | 0.40 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 30691471 | missense variant | G/C | snv | 0.710 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.925 | 0.080 | 4 | 125449492 | missense variant | G/A;T | snv | 4.3E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.080 | 2 | 201298088 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 26694890 | intergenic variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 4 | 125451587 | missense variant | G/A | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.080 | 2 | 211377000 | 3 prime UTR variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 2 | 211378286 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.080 | 10 | 5960405 | missense variant | T/G | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.080 | 2 | 201387816 | missense variant | G/A;T | snv | 0.29; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.080 | 10 | 94279840 | missense variant | G/A;C | snv | 8.8E-05; 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 4 | 163148797 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 17307077 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 1 | 17307027 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.080 | 18 | 1898710 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 5 | 135894564 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.080 | 2 | 46187030 | 3 prime UTR variant | G/A | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 1 | 17342111 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |