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
