GLRA1, glycine receptor alpha 1, 2741
N. diseases: 75; N. variants: 32
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 | 0.120 | 5 | 151851406 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 16 | 1993 | 2017 | ||||||||
|
1.000 | 0.120 | 5 | 151822764 | missense variant | C/T | snv | 4.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 17 | 1993 | 2015 | |||||||
|
1.000 | 0.120 | 5 | 151829060 | missense variant | T/C;G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1993 | 2015 | |||||||
|
1.000 | 0.120 | 5 | 151859984 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1993 | 2015 | |||||||
|
1.000 | 0.120 | 5 | 151851487 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 13 | 1993 | 2015 | ||||||||
|
1.000 | 0.120 | 5 | 151851420 | missense variant | C/A;G | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 13 | 1993 | 2015 | ||||||||
|
1.000 | 0.120 | 5 | 151851392 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 13 | 1993 | 2015 | ||||||||
|
1.000 | 0.120 | 5 | 151851470 | missense variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 13 | 1993 | 2015 | ||||||||
|
1.000 | 0.120 | 5 | 151851463 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 13 | 1993 | 2015 | ||||||
|
1.000 | 0.120 | 5 | 151829059 | frameshift variant | A/- | del |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.120 | 5 | 151822777 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 5 | 151856337 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 5 | 151855047 | stop gained | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 5 | 151851440 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 151851525 | missense variant | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 151829009 | stop gained | G/T | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 5 | 151851443 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 151886719 | splice donor variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 151851418 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 151828950 | stop gained | G/A | snv | 4.8E-05 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 5 | 151859963 | frameshift variant | G/- | delins | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 5 | 151851566 | missense variant | G/A | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 5 | 151856384 | splice acceptor variant | C/G;T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 |