| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.040 | 0.750 | 4 | 2014 | 2017 | |||
|
3 | 0.882 | 0.040 | 7 | 106872566 | synonymous variant | C/T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.080 | 4 | 186083346 | missense variant | C/T | snv | 4.1E-04 | 5.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 7 | 106868886 | missense variant | C/A;T | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.120 | 7 | 22733108 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 7 | 106884244 | synonymous variant | C/T | snv | 0.12 | 8.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.080 | 1 | 207321071 | upstream gene variant | T/C | snv | 0.77 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 8 | 8347928 | intron variant | A/G | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
4 | 1.000 | 2 | 112833698 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
23 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 17 | 5435739 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 1 | 60864031 | intron variant | G/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 3 | 187075635 | missense variant | C/A;G;T | snv | 4.0E-06; 6.8E-05; 3.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 9 | 117712537 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |