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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.070 | 1.000 | 7 | 2006 | 2020 | |||||
|
2 | 0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2006 | 2018 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2006 | 2018 | |||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2006 | 2011 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
8 | 0.807 | 0.200 | 11 | 17387595 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||
|
2 | 0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||
|
3 | 0.882 | 0.080 | 7 | 44147765 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2007 | 2009 | |||||
|
2 | 0.925 | 0.080 | 7 | 44147795 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2008 | 2015 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
7 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
21 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.120 | 2 | 181678138 | missense variant | G/A;C | snv | 8.0E-06; 8.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 12 | 120996261 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.080 | 7 | 44153387 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.080 | 7 | 44152420 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |