| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2018 | |||||||
|
1 | 168728523 | intron variant | A/C | snv | 0.57 |
|
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 | |||||||||
|
0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
1 | 206940410 | intron variant | G/C | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 183186170 | upstream gene variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 8974539 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 116947639 | intron variant | G/T | snv | 0.80 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 169696410 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
1 | 22735058 | intron variant | G/A | snv | 8.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 45585381 | intron variant | G/A | snv | 4.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 22617716 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
1 | 203215638 | intron variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 56956811 | missense variant | C/T | snv | 0.98 | 0.98 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1 | 53340210 | upstream gene variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1 | 39753393 | 3 prime UTR variant | C/G;T | snv | 0.33 | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 54638272 | 3 prime UTR variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 1 | 196701709 | intron variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 169537838 | intron variant | T/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 1 | 196686613 | intron variant | A/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 235431636 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |