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 | 1.000 | 0.080 | 2 | 113220126 | missense variant | G/A;C | snv | 2.0E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 14 | 95132574 | missense variant | T/C | snv | 1.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 1 | 21598453 | missense variant | T/C | snv | 9.5E-03 | 1.0E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 18 | 75288186 | missense variant | G/A;C | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 10 | 43118397 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.080 | 9 | 97854657 | missense variant | C/A;G;T | snv | 2.0E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 18 | 75288051 | missense variant | G/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.080 | 11 | 58709815 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 7 | 55160171 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.080 | 7 | 47992027 | intron variant | A/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 10 | 129488086 | intron variant | C/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 95516630 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 8 | 132887509 | missense variant | A/G | snv | 8.8E-05 | 3.3E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.080 | 12 | 46775115 | synonymous variant | A/G | snv | 3.1E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 118422631 | intergenic variant | C/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 7 | 47955186 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.120 | 10 | 43120114 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 1 | 117956431 | intron variant | T/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.080 | 9 | 97776188 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 9 | 97896036 | regulatory region variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 14 | 103701208 | 3 prime UTR variant | G/A | snv | 0.59 | 0.61 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 10 | 59906391 | missense variant | C/A;G;T | snv | 4.9E-06; 9.9E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 9 | 95508325 | missense variant | G/C | snv | 7.8E-04 | 6.1E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 4 | 55539035 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.080 | 2 | 8827045 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |