rs74598136
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 rs74598136(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 155235750 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74598136 |
| dbSNP (classic) | rs74598136 |
| ClinGen | rs74598136 |
| ebi | rs74598136 |
| HLI | rs74598136 |
| Exac | rs74598136 |
| Gnomad | rs74598136 |
| Varsome | rs74598136 |
| LitVar | rs74598136 |
| Map | rs74598136 |
| PheGenI | rs74598136 |
| Biobank | rs74598136 |
| 1000 genomes | rs74598136 |
| hgdp | rs74598136 |
| ensembl | rs74598136 |
| geneview | rs74598136 |
| scholar | rs74598136 |
| rs74598136 | |
| pharmgkb | rs74598136 |
| gwascentral | rs74598136 |
| openSNP | rs74598136 |
| 23andMe | rs74598136 |
| SNPshot | rs74598136 |
| SNPdbe | rs74598136 |
| MSV3d | rs74598136 |
| GWAS Ctlg | rs74598136 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs74598136(T;T) |
| Alt | rs74598136(T;T) |
| Reference | Rs74598136(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.155205541G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004568.2, |
