Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 3 | 128904079 | missense variant | G/A;C | snv | 1.8E-02; 5.2E-05 |
|
0.800 | 0 | ||||||||||||
|
1.000 | 3 | 128910051 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 0 | ||||||||||||
|
1.000 | 3 | 128910144 | missense variant | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 128902577 | missense variant | G/A;T | snv | 4.4E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 3 | 128906208 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 3 | 128897654 | missense variant | C/T | snv | 6.0E-05 | 9.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 3 | 128896491 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
3 | 128909410 | missense variant | C/T | snv | 7.2E-05 | 1.3E-04 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 128909410 | missense variant | C/T | snv | 7.2E-05 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 128906139 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 128906139 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 3 | 128895321 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 5 | 2014 | 2018 | ||||||||||
|
1.000 | 3 | 128906220 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 1.000 | 8 | 2007 | 2016 | |||||||||
|
1.000 | 3 | 128879821 | missense variant | T/A | snv |
|
0.800 | 1.000 | 8 | 2007 | 2016 | ||||||||||
|
1.000 | 3 | 128899450 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.800 | 1.000 | 8 | 2007 | 2016 | ||||||||
|
1.000 | 3 | 128909019 | missense variant | C/T | snv | 4.0E-04 | 4.1E-04 |
|
0.700 | 1.000 | 8 | 2007 | 2016 | ||||||||
|
1.000 | 3 | 128906121 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 8 | 2007 | 2016 | |||||||||
|
1.000 | 3 | 128906211 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 8 | 2007 | 2016 | |||||||||
|
1.000 | 3 | 128909411 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 8 | 2007 | 2016 |