rs367968666
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs367968666(A;C) |
| Make rs367968666(C;C) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 1 |
| Position | 155237458 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367968666 |
| dbSNP (classic) | rs367968666 |
| ClinGen | rs367968666 |
| ebi | rs367968666 |
| HLI | rs367968666 |
| Exac | rs367968666 |
| Gnomad | rs367968666 |
| Varsome | rs367968666 |
| LitVar | rs367968666 |
| Map | rs367968666 |
| PheGenI | rs367968666 |
| Biobank | rs367968666 |
| 1000 genomes | rs367968666 |
| hgdp | rs367968666 |
| ensembl | rs367968666 |
| geneview | rs367968666 |
| scholar | rs367968666 |
| rs367968666 | |
| pharmgkb | rs367968666 |
| gwascentral | rs367968666 |
| openSNP | rs367968666 |
| 23andMe | rs367968666 |
| SNPshot | rs367968666 |
| SNPdbe | rs367968666 |
| MSV3d | rs367968666 |
| GWAS Ctlg | rs367968666 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs367968666(C;C) |
| Alt | rs367968666(C;C) |
| Reference | Rs367968666(A;A) |
| Significance | Pathogenic |
| Disease | Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease |
| Reversed | 0 |
| HGVS | NC_000001.10:g.155207249A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004580.3, RCV000004581.3, |
