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rs1801175

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome17
Position42903947
GeneG6PC
is asnp
is mentioned by
dbSNPrs1801175
ebirs1801175
HLIrs1801175
Exacrs1801175
Varsomers1801175
Maprs1801175
PheGenIrs1801175
hapmaprs1801175
1000 genomesrs1801175
hgdprs1801175
ensemblrs1801175
gopubmedrs1801175
geneviewrs1801175
scholarrs1801175
googlers1801175
pharmgkbrs1801175
gwascentralrs1801175
openSNPrs1801175
23andMers1801175
23andMe allrs1801175
SNP Nexus

SNPshotrs1801175
SNPdbers1801175
MSV3drs1801175
GWAS Ctlgrs1801175
Max Magnitude5
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

OMIM232200
Desc
Variant0002
Relatedalso
ClinVar
Risk rs1801175(T;T)
Alt rs1801175(T;T)
Reference rs1801175(C;C)
Significance Pathogenic
Disease Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41055964C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012778.5,


[PMID 2172641] Diagnosis of a novel glycogen storage disease: type 1aSP.


[PMID 7814621OA-icon.png] Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.


[PMID 8182131OA-icon.png] 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.