HSPB8, heat shock protein family B (small) member 8, 26353
N. diseases: 122; N. variants: 6
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
0.700 | 1.000 | 3 | 2016 | 2018 | |||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
0.700 | 1.000 | 3 | 2016 | 2018 | |||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
0.700 | 1.000 | 3 | 2016 | 2018 | |||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Neoplasms | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del |
|
0.700 | 1.000 | 3 | 2016 | 2018 | |||||||||
|
0.827 | 0.080 | 12 | 119187080 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.720 | 1.000 | 2 | 2006 | 2017 | ||||||||
|
0.827 | 0.080 | 12 | 119187080 | missense variant | G/C;T | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||||||
|
0.827 | 0.080 | 12 | 119187080 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2004 | 2017 | ||||||||
|
0.827 | 0.080 | 12 | 119187078 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2004 | 2017 | ||||||||
|
0.827 | 0.080 | 12 | 119187078 | missense variant | A/C;G | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||||||
|
0.827 | 0.080 | 12 | 119187080 | missense variant | G/C;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |