rs113994128
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a glycogen storage disease IIIa mutation |
| (T;T) | 6.3 | Glycogen storage disease type IIIa |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 99875394 |
| Gene | AGL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113994128 |
| dbSNP (classic) | rs113994128 |
| ClinGen | rs113994128 |
| ebi | rs113994128 |
| HLI | rs113994128 |
| Exac | rs113994128 |
| Gnomad | rs113994128 |
| Varsome | rs113994128 |
| LitVar | rs113994128 |
| Map | rs113994128 |
| PheGenI | rs113994128 |
| Biobank | rs113994128 |
| 1000 genomes | rs113994128 |
| hgdp | rs113994128 |
| ensembl | rs113994128 |
| geneview | rs113994128 |
| scholar | rs113994128 |
| rs113994128 | |
| pharmgkb | rs113994128 |
| gwascentral | rs113994128 |
| openSNP | rs113994128 |
| 23andMe | rs113994128 |
| SNPshot | rs113994128 |
| SNPdbe | rs113994128 |
| MSV3d | rs113994128 |
| GWAS Ctlg | rs113994128 |
| Max Magnitude | 6.3 |
aka c.1222C>T (p.Arg408Ter or R408X)
Apparently due to a founder effect involving this variant, the Faroe Islands have the highest worldwide prevalence of glycogen storage disease (GSD) type IIIa.[PMID 11378828]
| ClinVar | |
|---|---|
| Risk | Rs113994128(T;T) |
| Alt | Rs113994128(T;T) |
| Reference | Rs113994128(C;C) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease IIIa Glycogen storage disease type III |
| Variation | info |
| Gene | AGL |
| CLNDBN | Glycogen storage disease IIIa Glycogen storage disease type III |
| Reversed | 0 |
| HGVS | NC_000001.10:g.100340950C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001165.3, RCV000020372.1, |
