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 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.820 | 1.000 | 5 | 2002 | 2011 | |||||||
|
0.925 | 0.120 | 9 | 116698130 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2002 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 116698923 | missense variant | G/A | snv | 3.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2002 | 2008 | ||||||
|
1.000 | 0.120 | 9 | 116698849 | frameshift variant | A/- | delins | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 9 | 116698130 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 9 | 116698964 | missense variant | C/T | snv | 1.5E-03 | 1.1E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
9 | 116698433 | frameshift variant | G/- | del | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
9 | 116699102 | frameshift variant | -/TA | delins |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |