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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.030 | 0.667 | 3 | 2004 | 2009 | |||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.020 | 0.500 | 2 | 2004 | 2009 | ||||
|
18 | 0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.200 | 2 | 48983125 | missense variant | G/A | snv | 6.9E-04 | 5.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.160 | 2 | 48694236 | missense variant | T/C | snv | 0.61 | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2004 | 2009 | |||||
|
3 | 0.882 | 0.200 | 2 | 48963097 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 2 | 48990629 | missense variant | G/T | snv | 0.810 | 1.000 | 8 | 2003 | 2018 | |||||
|
2 | 0.925 | 0.160 | 2 | 48989022 | missense variant | A/G;T | snv | 4.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 6 | 32979854 | missense variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 48963475 | missense variant | G/A;T | snv | 4.0E-06 | 0.810 | 1.000 | 8 | 2003 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 48963122 | missense variant | C/T | snv | 0.810 | 1.000 | 8 | 2003 | 2015 | |||||
|
1 | 1.000 | 0.080 | 4 | 55100286 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 55105679 | intron variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 48755483 | intron variant | C/G | snv | 0.19 | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | X | 50911091 | missense variant | A/G | snv | 5.7E-02 | 5.1E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 2 | 48963476 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 48963187 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 |