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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 16 | 70289223 | intron variant | C/T | snv | 0.43 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 16 | 70289223 | intron variant | C/T | snv | 0.43 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 16 | 70268356 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.882 | 0.080 | 16 | 70268356 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
1.000 | 16 | 70252890 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
16 | 70275334 | intron variant | G/A | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 16 | 70268366 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 16 | 70255763 | missense variant | T/C | snv | 4.8E-05 | 4.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 16 | 70252755 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 70276971 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 70254688 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 16 | 70268356 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 16 | 70277088 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||||||
|
1.000 | 16 | 70277057 | missense variant | T/G | snv | 7.0E-06 |
|
0.800 | 0 |