rs79653797
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 rs79653797(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 155238629 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79653797 |
| dbSNP (classic) | rs79653797 |
| ClinGen | rs79653797 |
| ebi | rs79653797 |
| HLI | rs79653797 |
| Exac | rs79653797 |
| Gnomad | rs79653797 |
| Varsome | rs79653797 |
| LitVar | rs79653797 |
| Map | rs79653797 |
| PheGenI | rs79653797 |
| Biobank | rs79653797 |
| 1000 genomes | rs79653797 |
| hgdp | rs79653797 |
| ensembl | rs79653797 |
| geneview | rs79653797 |
| scholar | rs79653797 |
| rs79653797 | |
| pharmgkb | rs79653797 |
| gwascentral | rs79653797 |
| openSNP | rs79653797 |
| 23andMe | rs79653797 |
| SNPshot | rs79653797 |
| SNPdbe | rs79653797 |
| MSV3d | rs79653797 |
| GWAS Ctlg | rs79653797 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs79653797(A;A) rs79653797(C;C) |
| Alt | rs79653797(A;A) rs79653797(C;C) |
| Reference | Rs79653797(G;G) |
| Significance | Pathogenic |
| Disease | Gaucher's disease Gaucher disease Gaucher disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher's disease, type 1 Gaucher disease, perinatal lethal Gaucher disease |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155208420C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004518.5, RCV000004519.5, RCV000020154.1, |
