rs398123532
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Gaucher disease mutation |
| Make rs398123532(T;T) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 1 |
| Position | 155238270 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123532 |
| dbSNP (classic) | rs398123532 |
| ClinGen | rs398123532 |
| ebi | rs398123532 |
| HLI | rs398123532 |
| Exac | rs398123532 |
| Gnomad | rs398123532 |
| Varsome | rs398123532 |
| LitVar | rs398123532 |
| Map | rs398123532 |
| PheGenI | rs398123532 |
| Biobank | rs398123532 |
| 1000 genomes | rs398123532 |
| hgdp | rs398123532 |
| ensembl | rs398123532 |
| geneview | rs398123532 |
| scholar | rs398123532 |
| rs398123532 | |
| pharmgkb | rs398123532 |
| gwascentral | rs398123532 |
| openSNP | rs398123532 |
| 23andMe | rs398123532 |
| SNPshot | rs398123532 |
| SNPdbe | rs398123532 |
| MSV3d | rs398123532 |
| GWAS Ctlg | rs398123532 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs398123532(T;T) |
| Alt | rs398123532(T;T) |
| Reference | Rs398123532(C;C) |
| 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.155208061G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000079349.3, RCV000179793.1, |
