rs147138516
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs147138516(C;G) |
| Make rs147138516(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 155238570 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147138516 |
| dbSNP (classic) | rs147138516 |
| ClinGen | rs147138516 |
| ebi | rs147138516 |
| HLI | rs147138516 |
| Exac | rs147138516 |
| Gnomad | rs147138516 |
| Varsome | rs147138516 |
| LitVar | rs147138516 |
| Map | rs147138516 |
| PheGenI | rs147138516 |
| Biobank | rs147138516 |
| 1000 genomes | rs147138516 |
| hgdp | rs147138516 |
| ensembl | rs147138516 |
| geneview | rs147138516 |
| scholar | rs147138516 |
| rs147138516 | |
| pharmgkb | rs147138516 |
| gwascentral | rs147138516 |
| openSNP | rs147138516 |
| 23andMe | rs147138516 |
| SNPshot | rs147138516 |
| SNPdbe | rs147138516 |
| MSV3d | rs147138516 |
| GWAS Ctlg | rs147138516 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs147138516(G;G) |
| Alt | rs147138516(G;G) |
| Reference | Rs147138516(C;C) |
| Significance | Pathogenic |
| Disease | Gaucher's disease not provided |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher's disease, type 1 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.155208361C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004538.5, RCV000487788.1, |
