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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 16178825 | intergenic variant | A/G | snv | 0.47 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
2 | 15 | 60591082 | intron variant | C/A | snv | 0.68 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||||
|
3 | 15 | 60585831 | intron variant | G/A | snv | 0.67 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 5 | 52897294 | intron variant | A/G | snv | 6.6E-02 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||||
|
1 | 16 | 80463704 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||||
|
6 | 4 | 145900258 | intron variant | C/A | snv | 0.15 | 0.700 | 1.000 | 2 | 2011 | 2018 | ||||||
|
3 | 14 | 103106478 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 11 | 15919553 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 29182833 | intron variant | G/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 171007753 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 22 | 17957192 | intron variant | C/T | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 155154472 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 1 | 178544276 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 23050048 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 200291886 | intron variant | C/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 77876403 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 154114036 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 24489424 | missense variant | C/T | snv | 0.29 | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 22 | 24688848 | downstream gene variant | G/A | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 12 | 121004867 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 9 | 19586969 | intron variant | T/G | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 24965415 | downstream gene variant | A/G | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 111077216 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 88680551 | intron variant | C/A | snv | 0.57 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 15 | 73693923 | intron variant | G/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 |