rs121908299
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 3 | Carrier of a Gaucher disease mutation |
| Make rs121908299(T;T) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 1 |
| Position | 155238624 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908299 |
| dbSNP (classic) | rs121908299 |
| ClinGen | rs121908299 |
| ebi | rs121908299 |
| HLI | rs121908299 |
| Exac | rs121908299 |
| Gnomad | rs121908299 |
| Varsome | rs121908299 |
| LitVar | rs121908299 |
| Map | rs121908299 |
| PheGenI | rs121908299 |
| Biobank | rs121908299 |
| 1000 genomes | rs121908299 |
| hgdp | rs121908299 |
| ensembl | rs121908299 |
| geneview | rs121908299 |
| scholar | rs121908299 |
| rs121908299 | |
| pharmgkb | rs121908299 |
| gwascentral | rs121908299 |
| openSNP | rs121908299 |
| 23andMe | rs121908299 |
| SNPshot | rs121908299 |
| SNPdbe | rs121908299 |
| MSV3d | rs121908299 |
| GWAS Ctlg | rs121908299 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121908299(T;T) |
| Alt | rs121908299(T;T) |
| Reference | Rs121908299(C;C) |
| Significance | Pathogenic |
| Disease | Gaucher's disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher's disease, type 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155208415G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004550.5, |
