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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.120 | 11 | 12937202 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 1 | 196682702 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.120 | 17 | 42360972 | intron variant | C/G | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | X | 49224864 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.807 | 0.080 | 17 | 8014700 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.925 | 0.240 | 6 | 52246993 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.882 | 0.160 | 14 | 80966202 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 |