rs28940868
From SNPedia
| glycogen storage disease II (aka Pompe disease) |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | likely to have Pompe disease |
| (A;C) | 3 | Carrier for Pompe disease |
| (C;C) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 80112922 |
| Gene | GAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940868 |
| dbSNP (classic) | rs28940868 |
| ClinGen | rs28940868 |
| ebi | rs28940868 |
| HLI | rs28940868 |
| Exac | rs28940868 |
| Gnomad | rs28940868 |
| Varsome | rs28940868 |
| LitVar | rs28940868 |
| Map | rs28940868 |
| PheGenI | rs28940868 |
| Biobank | rs28940868 |
| 1000 genomes | rs28940868 |
| hgdp | rs28940868 |
| ensembl | rs28940868 |
| geneview | rs28940868 |
| scholar | rs28940868 |
| rs28940868 | |
| pharmgkb | rs28940868 |
| gwascentral | rs28940868 |
| openSNP | rs28940868 |
| 23andMe | rs28940868 |
| SNPshot | rs28940868 |
| SNPdbe | rs28940868 |
| MSV3d | rs28940868 |
| GWAS Ctlg | rs28940868 |
| Max Magnitude | 5 |
rs28940868, also known as Arg645Glu, is a SNP in the glucosidase alpha acid GAA gene. Mutations in this gene are potentially associated with glycogen storage disease II, which can also be known as Pompe disease. Over 300 mutations in this gene have been identified, so this SNP represents just one of them.
rs28940868(A) represents the SNP (ie mutation in this case) most commonly found in infants from Taiwan diagnosed with Pompe disease.[PMID 9554747]
| ClinVar | |
|---|---|
| Risk | Rs28940868(A;A) rs28940868(T;T) |
| Alt | Rs28940868(A;A) rs28940868(T;T) |
| Reference | Rs28940868(C;C) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease type II Glycogen storage disease |
| Variation | info |
| Gene | GAA |
| CLNDBN | Glycogen storage disease type II, infantile Glycogen storage disease, type II |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78086721C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004244.4, RCV000055768.1, |
