rs77369218
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | Carrier of a Gaucher disease mutation |
| Make rs77369218(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 155235726 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77369218 |
| dbSNP (classic) | rs77369218 |
| ClinGen | rs77369218 |
| ebi | rs77369218 |
| HLI | rs77369218 |
| Exac | rs77369218 |
| Gnomad | rs77369218 |
| Varsome | rs77369218 |
| LitVar | rs77369218 |
| Map | rs77369218 |
| PheGenI | rs77369218 |
| Biobank | rs77369218 |
| 1000 genomes | rs77369218 |
| hgdp | rs77369218 |
| ensembl | rs77369218 |
| geneview | rs77369218 |
| scholar | rs77369218 |
| rs77369218 | |
| pharmgkb | rs77369218 |
| gwascentral | rs77369218 |
| openSNP | rs77369218 |
| 23andMe | rs77369218 |
| SNPshot | rs77369218 |
| SNPdbe | rs77369218 |
| MSV3d | rs77369218 |
| GWAS Ctlg | rs77369218 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs77369218(T;T) |
| Alt | rs77369218(T;T) |
| Reference | Rs77369218(A;A) |
| Significance | Pathogenic |
| Disease | Subacute neuronopathic Gaucher's disease Gaucher disease Gaucher's disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Subacute neuronopathic Gaucher's disease Gaucher disease Gaucher's disease, type 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155205517T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004527.3, RCV000020149.1, RCV000411499.1, |
[PMID 2508065
] Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
[PMID 7475546] Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
[PMID 7627184] Gaucher disease in Spanish patients: analysis of eight mutations.
[PMID 7655857] Five new Gaucher disease mutations.
[PMID 11148530] A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.
[PMID 18586596] Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
