| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 128597592 | intergenic variant | A/G | snv | 0.13 |
|
0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||||
|
7 | 92779056 | intron variant | C/T | snv | 0.14 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
5 | 10624754 | missense variant | T/G | snv | 0.18 | 0.20 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 199043349 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 233206983 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
11 | 128315955 | regulatory region variant | G/C | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 150623061 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
14 | 93951185 | missense variant | T/C | snv | 3.3E-02 | 3.7E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
7 | 113142501 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
12 | 4209557 | intergenic variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
3 | 128587914 | regulatory region variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
7 | 50376454 | intron variant | G/T | snv | 1.0E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
3 | 3111655 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
14 | 75509305 | intergenic variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
18 | 63253621 | intron variant | C/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 23520972 | missense variant | C/A | snv | 0.45 | 0.39 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 198697103 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 96535945 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
8 | 144103704 | missense variant | G/A;C | snv | 7.3E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
19 | 1079960 | missense variant | G/A | snv | 5.7E-02 | 5.9E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
19 | 16316300 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
8 | 47739071 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
19 | 38409359 | 3 prime UTR variant | G/A | snv | 5.5E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 111630955 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 33573730 | 3 prime UTR variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2016 | 2019 |