| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 9 | 2641436 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 190208898 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 9 | 129818877 | missense variant | G/A;C | snv | 3.0E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1 | 32888928 | synonymous variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 19 | 53109614 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.080 | 1 | 32889110 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 1 | 32889123 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 1.000 | 0.080 | 3 | 123319754 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |