rs381737
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Gaucher disease (predicted if orientation is correct) |
| (A;T) | 3 | Unaffected carrier of Gaucher disease variant |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 155238141 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs381737 |
| dbSNP (classic) | rs381737 |
| ClinGen | rs381737 |
| ebi | rs381737 |
| HLI | rs381737 |
| Exac | rs381737 |
| Gnomad | rs381737 |
| Varsome | rs381737 |
| LitVar | rs381737 |
| Map | rs381737 |
| PheGenI | rs381737 |
| Biobank | rs381737 |
| 1000 genomes | rs381737 |
| hgdp | rs381737 |
| ensembl | rs381737 |
| geneview | rs381737 |
| scholar | rs381737 |
| rs381737 | |
| pharmgkb | rs381737 |
| gwascentral | rs381737 |
| openSNP | rs381737 |
| 23andMe | rs381737 |
| SNPshot | rs381737 |
| SNPdbe | rs381737 |
| MSV3d | rs381737 |
| GWAS Ctlg | rs381737 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | Rs381737(A;A) |
| Alt | Rs381737(A;A) |
| Reference | Rs381737(T;T) |
| Significance | Pathogenic |
| Disease | Subacute neuronopathic Gaucher's disease Acute neuronopathic Gaucher's disease Gaucher's disease Gaucher disease not provided |
| Variation | info |
| Gene | GBA |
| CLNDBN | Subacute neuronopathic Gaucher's disease Acute neuronopathic Gaucher's disease Gaucher's disease, type 1 Gaucher disease not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155207932A>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004540.5, RCV000004541.5, RCV000004542.5, RCV000020158.1, RCV000079355.3, |
[PMID 1840477
] A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
