rs1141814
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 rs1141814(T;T) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 1 |
| Position | 155239934 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1141814 |
| dbSNP (classic) | rs1141814 |
| ClinGen | rs1141814 |
| ebi | rs1141814 |
| HLI | rs1141814 |
| Exac | rs1141814 |
| Gnomad | rs1141814 |
| Varsome | rs1141814 |
| LitVar | rs1141814 |
| Map | rs1141814 |
| PheGenI | rs1141814 |
| Biobank | rs1141814 |
| 1000 genomes | rs1141814 |
| hgdp | rs1141814 |
| ensembl | rs1141814 |
| geneview | rs1141814 |
| scholar | rs1141814 |
| rs1141814 | |
| pharmgkb | rs1141814 |
| gwascentral | rs1141814 |
| openSNP | rs1141814 |
| 23andMe | rs1141814 |
| SNPshot | rs1141814 |
| SNPdbe | rs1141814 |
| MSV3d | rs1141814 |
| GWAS Ctlg | rs1141814 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs1141814(T;T) |
| Alt | rs1141814(T;T) |
| Reference | Rs1141814(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.155209725G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004565.5, |
