| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 39919296 | regulatory region variant | G/A | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 200228410 | intergenic variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 154115782 | intron variant | T/C | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 1 | 247438055 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 27916023 | upstream gene variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 158668470 | intron variant | G/A | snv | 8.0E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 117788172 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 117716081 | intergenic variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 91067740 | intergenic variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 113901277 | synonymous variant | G/A | snv | 0.17 | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 219906686 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 225774823 | upstream gene variant | A/G | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 92839027 | intron variant | G/A | snv | 7.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 198252709 | intron variant | T/C | snv | 5.1E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 114446589 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 171601134 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 23872873 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 23514078 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 63435757 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 117612481 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 198578103 | regulatory region variant | C/G | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 23514124 | intron variant | AA/-;A;AAA | delins | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 247874908 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 150578819 | intron variant | T/C | snv | 3.8E-02 | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |