GABRB3, gamma-aminobutyric acid type A receptor subunit beta3, 2562
N. diseases: 139; N. variants: 56
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 26801258 | intron variant | A/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 26793345 | intron variant | C/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 15 | 26774455 | intron variant | C/A;G;T | snv | 0.13 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
15 | 26783694 | intron variant | C/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 15 | 26567721 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
1.000 | 15 | 26567721 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.040 | 15 | 26683789 | intron variant | C/G;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 15 | 26683789 | intron variant | C/G;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
15 | 26783430 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 15 | 26621417 | missense variant | C/T | snv |
|
0.800 | 1.000 | 6 | 2013 | 2017 | ||||||||||
|
1.000 | 15 | 26561099 | missense variant | C/T | snv |
|
0.800 | 1.000 | 6 | 2013 | 2017 | ||||||||||
|
0.925 | 0.040 | 15 | 26772759 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.925 | 0.040 | 15 | 26772759 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
15 | 26748096 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
15 | 26789887 | non coding transcript exon variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.080 | 15 | 26560943 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.080 | 15 | 26560943 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.080 | 15 | 26560943 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
15 | 26786131 | intron variant | C/T | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 26789584 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 26728977 | intron variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |