rs397515515
From SNPedia
| Merged into | rs439898 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (T;T) | 0 | common genotype |
| Make rs397515515(C;T) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 1 |
| Position | 155208421 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515515 |
| dbSNP (classic) | rs397515515 |
| ClinGen | rs397515515 |
| ebi | rs397515515 |
| HLI | rs397515515 |
| Exac | rs397515515 |
| Gnomad | rs397515515 |
| Varsome | rs397515515 |
| LitVar | rs397515515 |
| Map | rs397515515 |
| PheGenI | rs397515515 |
| Biobank | rs397515515 |
| 1000 genomes | rs397515515 |
| hgdp | rs397515515 |
| ensembl | rs397515515 |
| geneview | rs397515515 |
| scholar | rs397515515 |
| rs397515515 | |
| pharmgkb | rs397515515 |
| gwascentral | rs397515515 |
| openSNP | rs397515515 |
| 23andMe | rs397515515 |
| SNPshot | rs397515515 |
| SNPdbe | rs397515515 |
| MSV3d | rs397515515 |
| GWAS Ctlg | rs397515515 |
| Status | Merged into rs439898 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs397515515(T;T) |
| Alt | Rs397515515(T;T) |
| Reference | Rs397515515(C;C) |
| Significance | Pathogenic |
| Disease | Gaucher disease not provided Gaucher's disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher disease not provided Gaucher's disease, type 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155208421G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000055774.1, RCV000079345.3, RCV000179355.1, |
