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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 16 | 85985027 | intron variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 8 | 49074671 | 3 prime UTR variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.120 | 8 | 11466955 | intron variant | A/G | snv | 0.87 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.240 | 15 | 101277522 | upstream gene variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.360 | 16 | 11144926 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.752 | 0.360 | 10 | 6059750 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 15 | 81225649 | missense variant | G/A;T | snv | 2.7E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.240 | 21 | 42421219 | intron variant | C/A | snv | 0.44 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
9 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.160 | 8 | 11493510 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.200 | 10 | 61929318 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.200 | 6 | 137876194 | intron variant | A/C | snv | 0.62 | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
19 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.200 | 2 | 178112712 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 1 | 173185165 | 3 prime UTR variant | G/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2018 | 2018 |