| 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 | 206444237 | intron variant | A/G | snv | 6.1E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1 | 168728523 | intron variant | A/C | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
19 | 54255803 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
19 | 51024108 | missense variant | G/A;C | snv | 6.0E-02; 4.2E-06 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
2 | 36705350 | intron variant | A/T | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
11 | 6394233 | missense variant | G/A;C | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
10 | 88766035 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
11 | 126201454 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
8 | 56964017 | missense variant | T/C | snv | 1.0E-02 | 9.1E-03 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
3 | 120450401 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
21 | 44236891 | missense variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 107135646 | upstream gene variant | G/C | snv | 3.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 160750284 | intron variant | C/T | snv | 8.7E-02 | 8.6E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
16 | 5029465 | non coding transcript exon variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 6463025 | 3 prime UTR variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
3 | 148844612 | intron variant | G/A;T | snv | 0.22; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
6 | 3003736 | 5 prime UTR variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
12 | 42133239 | intron variant | T/C | snv | 7.8E-03 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
2 | 36766797 | intron variant | C/A | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
8 | 21693256 | 3 prime UTR variant | A/C;G;T | snv | 0.48; 1.2E-05 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
2 | 205770145 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
9 | 5510644 | 5 prime UTR variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 7064780 | intron variant | A/T | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 95738117 | missense variant | A/G | snv | 4.0E-06; 0.13 | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
20 | 38345754 | upstream gene variant | G/A | snv | 0.77 |
|
0.700 | 1.000 | 2 | 2018 | 2018 |