| 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 | 94074274 | intron variant | C/T | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1 | 183389270 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 183833125 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 48651222 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
7 | 1 | 109928142 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 76433779 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 212260231 | intergenic variant | G/A | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 232639279 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 134842306 | intron variant | T/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 2 | 204118831 | intergenic variant | T/C | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 27558905 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 169013785 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.040 | 2 | 31440248 | regulatory region variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 3 | 120706484 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 29256913 | intron variant | G/A | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 157229738 | intron variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 3 | 355870 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 87254878 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 4 | 20989760 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 4 | 145900258 | intron variant | C/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 4 | 181783398 | intergenic variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 78698045 | intergenic variant | C/A | snv | 5.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 5 | 39424526 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 73099362 | intergenic variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 65395057 | intron variant | T/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 |