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 | ||||||||||||
|
1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
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 | 26758948 | intron variant | T/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 26732026 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26793345 | intron variant | C/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 26748096 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 26565542 | intron variant | A/G;T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 26768806 | intron variant | T/A | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 26764379 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 26777184 | intron variant | G/C | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 26789887 | non coding transcript exon variant | C/T | snv | 0.90 |
|
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 |