rs1801175
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2.5 | carrier for glycogen storage disease, type 1A |
| (T;T) | 5 | Glycogen storage disease, type 1A |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 42903947 |
| Gene | G6PC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801175 |
| dbSNP (classic) | rs1801175 |
| ClinGen | rs1801175 |
| ebi | rs1801175 |
| HLI | rs1801175 |
| Exac | rs1801175 |
| Gnomad | rs1801175 |
| Varsome | rs1801175 |
| LitVar | rs1801175 |
| Map | rs1801175 |
| PheGenI | rs1801175 |
| Biobank | rs1801175 |
| 1000 genomes | rs1801175 |
| hgdp | rs1801175 |
| ensembl | rs1801175 |
| geneview | rs1801175 |
| scholar | rs1801175 |
| rs1801175 | |
| pharmgkb | rs1801175 |
| gwascentral | rs1801175 |
| openSNP | rs1801175 |
| 23andMe | rs1801175 |
| SNPshot | rs1801175 |
| SNPdbe | rs1801175 |
| MSV3d | rs1801175 |
| GWAS Ctlg | rs1801175 |
| Max Magnitude | 5 |
rs1801175, also known as R83C or Arg83Cys, is a SNP in the glucose-6-phosphatase G6PC gene. The common allele is rs1801175(C).
Observed to date primarily in Ashkenazi Jews, at a frequency of about 1 in 100, the rs1801175(T) allele is associated with Glycogen storage disease type 1A; heterozgyotes are unaffected carriers, homozygote rs1801175(T;T) will have the disease. However, the mutation alone does not predict the severity of the disease.[PMID 15316959]
Note that 23andMe tests for this SNP using their own terminology (i3002486).
See also: OMIM 232200.0002
| ClinVar | |
|---|---|
| Risk | Rs1801175(T;T) |
| Alt | Rs1801175(T;T) |
| Reference | Rs1801175(C;C) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease type 1A Glycogen storage disease not provided |
| Variation | info |
| Gene | G6PC |
| CLNDBN | Glycogen storage disease type 1A Glycogen storage disease, type I not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.41055964C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012778.5, RCV000360229.1, RCV000424594.1, |
[PMID 2172641] Diagnosis of a novel glycogen storage disease: type 1aSP.
[PMID 7814621
] Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
[PMID 8182131] Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
[PMID 8211187] Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
[PMID 9332655] Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
