| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 100134688 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 100137627 | non coding transcript exon variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 15 | 100152748 | missense variant | G/A;T | snv | 7.1E-02; 3.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 10015782 | intron variant | G/A | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 6 | 100181202 | downstream gene variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 100185497 | intron variant | T/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 100276651 | 3 prime UTR variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 100299310 | missense variant | A/G | snv | 0.69 | 0.72 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
9 | 100345896 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.080 | 10 | 100635683 | intergenic variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||
|
10 | 100666192 | downstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 100678259 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 100679337 | intron variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 100687890 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
6 | 100705906 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 100708930 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 100875096 | regulatory region variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 100893176 | missense variant | G/T | snv | 4.0E-02 | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
10 | 100913950 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 100935225 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
8 | 100946205 | intron variant | G/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 100957300 | upstream gene variant | T/C;G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 101062668 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
14 | 101073047 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 101073662 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |