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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 15 | 26567655 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 15 | 26567655 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 15 | 26621403 | missense variant | T/G | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 15 | 26621403 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 15 | 26772403 | missense variant | A/C;G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 15 | 26567658 | missense variant | G/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
15 | 26567650 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 15 | 26561117 | missense variant | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 15 | 26561117 | missense variant | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 15 | 26773694 | missense variant | G/A | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 15 | 26772759 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 |
|
Nervous System Diseases | 0.020 | < 0.001 | 2 | 2007 | 2012 | |||||||
|
0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 |
|
Nervous System Diseases | 0.020 | < 0.001 | 2 | 2007 | 2012 | |||||||
|
0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 15 | 26561149 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 11 | 2008 | 2017 | |||||||||
|
1.000 | 15 | 26561149 | missense variant | G/A | snv |
|
0.700 | 1.000 | 11 | 2008 | 2017 | ||||||||||
|
1.000 | 15 | 26561149 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 11 | 2008 | 2017 | |||||||||
|
0.882 | 0.080 | 15 | 26773694 | missense variant | G/A | snv | 2.9E-03 | 3.5E-03 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||||
|
0.882 | 0.080 | 15 | 26773694 | missense variant | G/A | snv | 2.9E-03 | 3.5E-03 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||||
|
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 | ||||||||
|
1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2010 | 2010 |