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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.900 | 0.852 | 27 | 2009 | 2020 | ||||
|
6 | 0.827 | 0.040 | 19 | 6718135 | missense variant | T/G | snv | 2.8E-03 | 2.4E-03 | 0.720 | 1.000 | 3 | 2014 | 2018 | |||
|
2 | 0.925 | 0.160 | 19 | 6713251 | missense variant | G/A;C | snv | 0.14; 4.0E-06 | 0.050 | 0.800 | 5 | 2010 | 2015 | ||||
|
4 | 0.882 | 0.160 | 19 | 6718523 | intron variant | T/C | snv | 0.25 | 0.020 | 0.500 | 2 | 2009 | 2015 | ||||
|
2 | 0.925 | 0.160 | 19 | 6710937 | non coding transcript exon variant | G/A | snv | 0.17 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 19 | 6686078 | intron variant | G/A | snv | 4.9E-02 | 6.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.040 | 19 | 6707118 | missense variant | G/A | snv | 2.2E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.160 | 19 | 6722624 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.200 | 19 | 6709693 | synonymous variant | C/T | snv | 0.17 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 19 | 6678019 | missense variant | T/C;G | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 19 | 6722011 | intron variant | G/T | snv | 0.79 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 19 | 6719285 | missense variant | T/C;G | snv | 4.0E-06; 4.8E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |