BAG3, BAG cochaperone 3, 9531
N. diseases: 223; N. variants: 31
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 12 | 2009 | 2016 | ||||||||
|
0.827 | 0.120 | 10 | 119676917 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 1990 | 2014 | ||||||||
|
0.925 | 0.080 | 10 | 119669938 | stop gained | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 10 | 119670037 | stop gained | C/T | snv | 8.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 10 | 119669932 | stop gained | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 119651821 | stop gained | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 119669946 | frameshift variant | -/T | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 119672284 | stop gained | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 119672477 | stop gained | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 119672446 | stop gained | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 |