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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 22 | 19176899 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 7 | 2013 | 2018 | ||||||||
|
1.000 | 0.120 | 22 | 19176872 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 7 | 2013 | 2018 | |||||||
|
0.827 | 0.160 | 22 | 19176585 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 7.0E-06 |
|
0.800 | 1.000 | 2 | 2018 | 2019 | |||||||
|
22 | 19180574 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 19179896 | 3 prime UTR variant | T/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 19179872 | 3 prime UTR variant | C/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 19179167 | upstream gene variant | A/G | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.160 | 22 | 19176585 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.827 | 0.160 | 22 | 19176585 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.827 | 0.160 | 22 | 19176585 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
22 | 19175173 | downstream gene variant | A/G | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 19178750 | upstream gene variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 22 | 19176884 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 22 | 19177779 | missense variant | C/T | snv | 3.7E-05 | 1.4E-05 |
|
0.800 | 0 | ||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.800 | 0 | |||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 22 | 19176221 | missense variant | C/G;T | snv | 8.0E-06 |
|
0.800 | 0 | |||||||||||
|
1.000 | 0.120 | 22 | 19176421 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 22 | 19177120 | frameshift variant | TTGTTCCCGC/- | delins | 2.8E-05 | 2.8E-05 |
|
0.700 | 0 |