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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.900 | 1.000 | 19 | 2004 | 2019 | ||||
|
4 | 1.000 | 0.080 | 4 | 99329262 | intron variant | C/A | snv | 0.13 | 0.820 | 1.000 | 4 | 2012 | 2019 | ||||
|
7 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 0.720 | 1.000 | 4 | 2014 | 2019 | |||
|
4 | 0.925 | 0.160 | 4 | 99336998 | intron variant | C/T | snv | 0.38 | 0.710 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99329813 | intron variant | C/A | snv | 0.30 | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99332551 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 4 | 99346215 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99336850 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 4 | 99315605 | non coding transcript exon variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.080 | 4 | 99313896 | synonymous variant | A/G;T | snv | 0.82 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99317841 | non coding transcript exon variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 4 | 99344976 | synonymous variant | T/A;C | snv | 4.0E-06; 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.050 | 1.000 | 5 | 2012 | 2018 | ||||
|
9 | 0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 | 0.020 | 1.000 | 2 | 2005 | 2018 | ||||
|
12 | 0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.160 | 4 | 99347396 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 |