{{Rsnum
|rsid=1801175
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Orientation=plus
|Chromosome=17
|position=42903947
|Gene=G6PC
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=G6PC
}}[[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: [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200&a=232200_AllelicVariant0002 OMIM 232200.0002]
{{omim
|id=232200
|rsnum=1801175
|variant=0002
}}{{ClinVar
|rsid=1801175
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=41055964
|CHROM=17
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050168000000040502110100
|GENEINFO=G6PC:2538
|GENE_NAME=G6PC
|GENE_ID=2538
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.41055964C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1312; 613742.0002
|CLNSIG=5
|CLNCUI=CN069618; C0268146
|CLNDBN=Glycogen storage disease type 1A; Glucose-6-phosphate transport defect
|Disease=Glycogen storage disease type 1A; Glucose-6-phosphate transport defect
|CLNACC=RCV000012778.1; RCV000020131.1
|Tags=PM;PMC;SLO;VLD;HD;GNO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1312:CN069618:232200:364:79258; NBK1312:C0268146:232220:364:79259:30102006
}}{{PMID Auto
|PMID=2172641
|Title=Diagnosis of a novel glycogen storage disease: type 1aSP.
}}

{{PMID Auto
|PMID=7814621
|Title=Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
|OA=1
}}

{{PMID Auto
|PMID=8182131
|Title=Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
|OA=1
}}

{{PMID Auto
|PMID=8211187
|Title=Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
}}

{{PMID Auto
|PMID=9332655
|Title=Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
}}