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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||||
|
1.000 | 15 | 26621417 | missense variant | C/T | snv |
|
0.800 | 1.000 | 6 | 2013 | 2017 | ||||||||||
|
1.000 | 15 | 26580456 | missense variant | T/A | snv |
|
0.800 | 1.000 | 6 | 2013 | 2017 | ||||||||||
|
1.000 | 15 | 26567671 | missense variant | G/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 | ||||||||
|
1.000 | 15 | 26567721 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
1.000 | 15 | 26621395 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 15 | 26621395 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 26732026 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.040 | 15 | 26773790 | intron variant | G/A;C;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
15 | 26764379 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26733600 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26788938 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26789376 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26750050 | non coding transcript exon variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26762437 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26789146 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26788878 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 15 | 26567721 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 26748512 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.925 | 0.040 | 15 | 26683789 | intron variant | C/G;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 |