SPG7, SPG7 matrix AAA peptidase subunit, paraplegin, 6687
N. diseases: 419; N. variants: 44
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 16 | 89531961 | frameshift variant | GG/AGC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 89529580 | splice donor variant | G/C;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 89554484 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 89531949 | missense variant | G/A;C | snv | 3.6E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 16 | 89550505 | stop gained | A/T | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 |