rs2230288
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | Homozygous for E326K variant of GBA gene |
| (A;G) | 0.5 | E326K variant in GBA gene |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 155236376 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230288 |
| dbSNP (classic) | rs2230288 |
| ClinGen | rs2230288 |
| ebi | rs2230288 |
| HLI | rs2230288 |
| Exac | rs2230288 |
| Gnomad | rs2230288 |
| Varsome | rs2230288 |
| LitVar | rs2230288 |
| Map | rs2230288 |
| PheGenI | rs2230288 |
| Biobank | rs2230288 |
| 1000 genomes | rs2230288 |
| hgdp | rs2230288 |
| ensembl | rs2230288 |
| geneview | rs2230288 |
| scholar | rs2230288 |
| rs2230288 | |
| pharmgkb | rs2230288 |
| gwascentral | rs2230288 |
| openSNP | rs2230288 |
| 23andMe | rs2230288 |
| SNPshot | rs2230288 |
| SNPdbe | rs2230288 |
| MSV3d | rs2230288 |
| GWAS Ctlg | rs2230288 |
| GMAF | 0.008724 |
| Max Magnitude | 1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2230288, also known as E326K or E365K, is a variation in the GBA gene which appears to be well tolerated; in other words, it is not associated with Gaucher disease.
However, there is some evidence suggesting it is not a neutral polymorphism; instead, it appears to be a "modifier" variant.[PMID 11903352]
A news item from 2016 links rs2230288 to increased risk for rapid eye movement sleep behavior disorder (RBD), which often precedes synucleinopathies such as Parkinson's disease. Note that this research is not published as yet.
| ClinVar | |
|---|---|
| Risk | Rs2230288(A;A) |
| Alt | Rs2230288(A;A) |
| Reference | Rs2230288(G;G) |
| Significance | Other |
| Disease | Gaucher's disease not specified Cogwheel rigidity Parkinsonism Rigidity Tremor Dementia Hyperlipidemia Hypertension Lower limb muscle weakness Neurological speech impairment not provided |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher's disease, type 1 not specified Cogwheel rigidity Parkinsonism Rigidity Tremor Dementia Hyperlipidemia Hypertension Lower limb muscle weakness Neurological speech impairment not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155206167C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004538.5, RCV000180537.1, RCV000252989.1, RCV000414984.1, RCV000415149.1, RCV000415387.1, RCV000487503.1, |
