rs409652
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a Gaucher disease mutation |
| (G;G) | 0 | common in clinvar |
| Make rs409652(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 155238174 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs409652 |
| dbSNP (classic) | rs409652 |
| ClinGen | rs409652 |
| ebi | rs409652 |
| HLI | rs409652 |
| Exac | rs409652 |
| Gnomad | rs409652 |
| Varsome | rs409652 |
| LitVar | rs409652 |
| Map | rs409652 |
| PheGenI | rs409652 |
| Biobank | rs409652 |
| 1000 genomes | rs409652 |
| hgdp | rs409652 |
| ensembl | rs409652 |
| geneview | rs409652 |
| scholar | rs409652 |
| rs409652 | |
| pharmgkb | rs409652 |
| gwascentral | rs409652 |
| openSNP | rs409652 |
| 23andMe | rs409652 |
| SNPshot | rs409652 |
| SNPdbe | rs409652 |
| MSV3d | rs409652 |
| GWAS Ctlg | rs409652 |
| Merged from | Rs398123534 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs409652(A;A) |
| Alt | rs409652(A;A) |
| Reference | Rs409652(G;G) |
| Significance | Pathogenic |
| Disease | not provided Gaucher's disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | not provided Gaucher's disease, type 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155207965C>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000079354.3, RCV000179794.1, |
