rs2279020
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2279020(A;A) |
Make rs2279020(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 161895883 |
Gene | GABRA1 |
is a | snp |
is | mentioned by |
dbSNP | rs2279020 |
dbSNP (classic) | rs2279020 |
ClinGen | rs2279020 |
ebi | rs2279020 |
HLI | rs2279020 |
Exac | rs2279020 |
Gnomad | rs2279020 |
Varsome | rs2279020 |
LitVar | rs2279020 |
Map | rs2279020 |
PheGenI | rs2279020 |
Biobank | rs2279020 |
1000 genomes | rs2279020 |
hgdp | rs2279020 |
ensembl | rs2279020 |
geneview | rs2279020 |
scholar | rs2279020 |
rs2279020 | |
pharmgkb | rs2279020 |
gwascentral | rs2279020 |
openSNP | rs2279020 |
23andMe | rs2279020 |
SNPshot | rs2279020 |
SNPdbe | rs2279020 |
MSV3d | rs2279020 |
GWAS Ctlg | rs2279020 |
GMAF | 0.4174 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 20356767] Association of alpha subunit of GABA(A) receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population
[PMID 14569258] Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder.
ClinVar | |
---|---|
Risk | rs2279020(A;A) |
Alt | rs2279020(A;A) |
Reference | Rs2279020(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Juvenile myoclonic epilepsy |
Variation | info |
Gene | GABRA1 |
CLNDBN | not specified Juvenile myoclonic epilepsy |
Reversed | 0 |
HGVS | NC_000005.9:g.161322889G>A |
CLNSRC | ClinVar |
CLNACC | RCV000079317.5, RCV000374016.1, |
[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population