rs78973108
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Gaucher disease mutation |
| Make rs78973108(T;T) |
| Reference | GRCh37.p5 37.3/137 |
| Chromosome | 1 |
| Position | 155237453 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78973108 |
| dbSNP (classic) | rs78973108 |
| ClinGen | rs78973108 |
| ebi | rs78973108 |
| HLI | rs78973108 |
| Exac | rs78973108 |
| Gnomad | rs78973108 |
| Varsome | rs78973108 |
| LitVar | rs78973108 |
| Map | rs78973108 |
| PheGenI | rs78973108 |
| Biobank | rs78973108 |
| 1000 genomes | rs78973108 |
| hgdp | rs78973108 |
| ensembl | rs78973108 |
| geneview | rs78973108 |
| scholar | rs78973108 |
| rs78973108 | |
| pharmgkb | rs78973108 |
| gwascentral | rs78973108 |
| openSNP | rs78973108 |
| 23andMe | rs78973108 |
| SNPshot | rs78973108 |
| SNPdbe | rs78973108 |
| MSV3d | rs78973108 |
| GWAS Ctlg | rs78973108 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs78973108(T;T) |
| Alt | rs78973108(T;T) |
| Reference | Rs78973108(C;C) |
| Significance | Pathogenic |
| Disease | Gaucher disease Gaucher disease not provided Gaucher's disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher disease, perinatal lethal Gaucher disease not provided Gaucher's disease, type 1 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.155207244C>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004573.3, RCV000020159.1, RCV000079357.4, RCV000180194.2, |
