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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 1 | 17582733 | intron variant | G/A | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 19 | 35721455 | missense variant | G/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 1 | 17520426 | intergenic variant | C/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 4 | 102567334 | intron variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 4 | 127882004 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 17 | 7670637 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 3 | 129091263 | missense variant | C/T | snv | 4.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 12 | 52492759 | missense variant | G/C | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 20 | 44414561 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.080 | 10 | 87885716 | intron variant | A/G | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 8 | 13094897 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.120 | 19 | 41350981 | 5 prime UTR variant | A/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 4 | 102537720 | non coding transcript exon variant | G/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 4 | 102532823 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 8 | 13092766 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.882 | 0.080 | 8 | 13090431 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.160 | 17 | 42322464 | missense variant | T/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 2 | 216122110 | missense variant | T/A | snv | 3.5E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.827 | 0.120 | 2 | 54247527 | intron variant | T/A;G | snv | 0.19 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
5 | 0.827 | 0.240 | 22 | 30610886 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.080 | 10 | 87897393 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.080 | 3 | 168680960 | intron variant | AA/-;A;AAA | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.080 | 7 | 87409385 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.807 | 0.080 | 14 | 20412501 | intron variant | C/A | snv | 0.89 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.160 | 2 | 54253232 | 3 prime UTR variant | C/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 |