rs1800312
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6.8 | Glycogen storage disease, type II |
| (C;G) | 3 | Carrier of a pathogenic mutation for glycogen storage disease, type II |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 17 |
| Position | 80117016 |
| Gene | GAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800312 |
| dbSNP (classic) | rs1800312 |
| ClinGen | rs1800312 |
| ebi | rs1800312 |
| HLI | rs1800312 |
| Exac | rs1800312 |
| Gnomad | rs1800312 |
| Varsome | rs1800312 |
| LitVar | rs1800312 |
| Map | rs1800312 |
| PheGenI | rs1800312 |
| Biobank | rs1800312 |
| 1000 genomes | rs1800312 |
| hgdp | rs1800312 |
| ensembl | rs1800312 |
| geneview | rs1800312 |
| scholar | rs1800312 |
| rs1800312 | |
| pharmgkb | rs1800312 |
| gwascentral | rs1800312 |
| openSNP | rs1800312 |
| 23andMe | rs1800312 |
| SNPshot | rs1800312 |
| SNPdbe | rs1800312 |
| MSV3d | rs1800312 |
| GWAS Ctlg | rs1800312 |
| Max Magnitude | 6.8 |
GAA gene, c.2238G>C (p.Trp746Cys)
The minor allele is reported in ClinVar as pathogenic for glycogen storage disease, type II, a recessively inherited condition.
| ClinVar | |
|---|---|
| Risk | rs1800312(A;A) Rs1800312(C;C) |
| Alt | rs1800312(A;A) Rs1800312(C;C) |
| Reference | Rs1800312(G;G) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease not provided |
| Variation | info |
| Gene | GAA |
| CLNDBN | Glycogen storage disease, type II not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78090815G>A; NC_000017.10:g.78090815G>C |
| CLNSRC | Illumina |
| CLNACC | RCV000410158.1, RCV000254988.2, RCV000283919.1, |
