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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 14 | 73198064 | missense variant | T/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 226885618 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 21 | 26022037 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.080 | 21 | 25891730 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 21 | 26000164 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 21 | 26112001 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 21 | 26021974 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 45991491 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 4 | 185662115 | missense variant | C/G;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 109129746 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.851 | 0.080 | 21 | 26051069 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.160 | 1 | 226883774 | missense variant | C/T | snv | 3.6E-03 | 3.4E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | 21 | 25975964 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 21 | 26053249 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 226891284 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 17 | 7673260 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 106898231 | non coding transcript exon variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.080 | 21 | 25911840 | missense variant | C/T | snv | 3.8E-04 | 4.9E-04 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 21 | 25976000 | missense variant | C/G;T | snv | 8.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 14 | 73173698 | missense variant | G/A;T | snv | 6.4E-05 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 226885596 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 |