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rs11150843

From SNPedia

Merged intors1042395
Orientationplus
Stabilizedplus
Make rs11150843(A;A)
Make rs11150843(A;G)
Make rs11150843(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80105870
GeneGAA
is asnp
is mentioned by
dbSNPrs11150843
ebirs11150843
HLIrs11150843
Exacrs11150843
Varsomers11150843
Maprs11150843
PheGenIrs11150843
hapmaprs11150843
1000 genomesrs11150843
hgdprs11150843
ensemblrs11150843
gopubmedrs11150843
geneviewrs11150843
scholarrs11150843
googlers11150843
pharmgkbrs11150843
gwascentralrs11150843
openSNPrs11150843
23andMers11150843
23andMe allrs11150843
SNP Nexus

SNPshotrs11150843
SNPdbers11150843
MSV3drs11150843
GWAS Ctlgrs11150843
StatusMerged into rs1042395
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GAA
allele A
frequency
sift TOLERATED
HuRef 1103645390988
Disease Association Defects in GAA are the cause of glycogen storage disease II (GSD-II) (MIM:232300); also known as Pompe disease. GSD-II is an autosomal recessive disorder with a broad clinical spectrum. At one end there are patients presenting at birth with massive accumulation of glycogen in muscle, heart and liver and with a life expectancy of less than two years. Cardiorespiratory insufficiency is the major cause of death in this infantile form of GSD-II. At the opposite end of the spectrum there are patients who are free of clinical symptoms for most of their life but who develop finally a slowly progressive myopathy. Often the first manifestation is a weakness of the limb and girdle muscle, but some patients present respiratory insufficiency first. There is a third clinical phenotype, the juvenile form.



Neighborrs1042393
Distance72