rs121907936
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a GAA gene mutation likely to be pathogenic (for Pompe disease) |
| (T;T) | 0 | common in clinvar |
| Make rs121907936(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 80107894 |
| Gene | GAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121907936 |
| dbSNP (classic) | rs121907936 |
| ClinGen | rs121907936 |
| ebi | rs121907936 |
| HLI | rs121907936 |
| Exac | rs121907936 |
| Gnomad | rs121907936 |
| Varsome | rs121907936 |
| LitVar | rs121907936 |
| Map | rs121907936 |
| PheGenI | rs121907936 |
| Biobank | rs121907936 |
| 1000 genomes | rs121907936 |
| hgdp | rs121907936 |
| ensembl | rs121907936 |
| geneview | rs121907936 |
| scholar | rs121907936 |
| rs121907936 | |
| pharmgkb | rs121907936 |
| gwascentral | rs121907936 |
| openSNP | rs121907936 |
| 23andMe | rs121907936 |
| SNPshot | rs121907936 |
| SNPdbe | rs121907936 |
| MSV3d | rs121907936 |
| GWAS Ctlg | rs121907936 |
| Max Magnitude | 3 |
aka c.953T>C (p.Met318Thr or M318T), as well as c.953T>A (p.Met318Lys or M318K); the former is annotated in OMIM as pathogenic but as a variant of uncertain significance in ClinVar; the latter is annotated as of uncertain significance in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs121907936(C;C) |
| Alt | rs121907936(C;C) |
| Reference | Rs121907936(T;T) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease type II |
| Variation | info |
| Gene | GAA |
| CLNDBN | Glycogen storage disease type II, infantile |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78081693T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004236.3, |
