| 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 | 7 | 101160333 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 101160859 | 3 prime UTR variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 101261042 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 101651774 | intron variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 101948430 | non coding transcript exon variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 10216524 | intergenic variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 10222237 | regulatory region variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 102224303 | upstream gene variant | C/T | snv | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 102261784 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 11 | 2010 | 2019 | ||||
|
1 | 14 | 102273938 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 10 | 102460544 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 12 | 102518780 | intergenic variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 102599593 | intron variant | T/C;G | snv | 0.16; 8.2E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 10 | 102641875 | upstream gene variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 102717854 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 102741554 | intergenic variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 102780133 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 102782790 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 102813206 | missense variant | T/C | snv | 0.59 | 0.57 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 14 | 102838088 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||||
|
1 | 10 | 102851169 | intron variant | G/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 1.000 | 0.040 | 10 | 102856906 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
2 | 1.000 | 0.040 | 10 | 102875591 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 |