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rs28940868

From SNPedia

glycogen storage disease II (aka Pompe disease)
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 likely to have Pompe disease
(A;C) 2 carrier for Pompe disease
(C;C) 0 normal
ReferenceGRCh38 38.1/141
Chromosome17
Position80112922
GeneGAA
is asnp
is mentioned by
dbSNPrs28940868
ebirs28940868
HLIrs28940868
Exacrs28940868
Varsomers28940868
Maprs28940868
PheGenIrs28940868
hapmaprs28940868
1000 genomesrs28940868
hgdprs28940868
ensemblrs28940868
gopubmedrs28940868
geneviewrs28940868
scholarrs28940868
googlers28940868
pharmgkbrs28940868
gwascentralrs28940868
openSNPrs28940868
23andMers28940868
23andMe allrs28940868
SNP Nexus

SNPshotrs28940868
SNPdbers28940868
MSV3drs28940868
GWAS Ctlgrs28940868
Max Magnitude5
rs28940868, also known as Arg645Glu, is a SNP in the glucosidase alpha acid GAA gene. Mutations in this gene are potentially associated with glycogen storage disease II, which can also be known as Pompe disease. Over 300 mutations in this gene have been identified, so this SNP represents just one of them.

rs28940868(A) represents the SNP (ie mutation in this case) most commonly found in infants from Taiwan diagnosed with Pompe disease.[PMID 9554747]

OMIM606800
DescGLYCOGEN STORAGE DISEASE II, INFANTILE FORM
Variant0010
Relatedalso
Neighborrs28937909
Distance8
Neighborrs1800309
Distance320


ClinVar
Risk rs28940868(A,T;A,T)
Alt rs28940868(A,T;A,T)
Reference rs28940868(C;C)
Significance Pathogenic
Disease Glycogen storage disease type II Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease type II, infantile Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78086721C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004244.3, RCV000055768.1,