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rs1042393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1042393(A;G)
Make rs1042393(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80105798
GeneGAA
is asnp
is mentioned by
dbSNPrs1042393
ebirs1042393
HLIrs1042393
Exacrs1042393
Varsomers1042393
Maprs1042393
PheGenIrs1042393
hapmaprs1042393
1000 genomesrs1042393
hgdprs1042393
ensemblrs1042393
gopubmedrs1042393
geneviewrs1042393
scholarrs1042393
googlers1042393
pharmgkbrs1042393
gwascentralrs1042393
openSNPrs1042393
23andMers1042393
23andMe allrs1042393
SNP Nexus

SNPshotrs1042393
SNPdbers1042393
MSV3drs1042393
GWAS Ctlgrs1042393
GMAF0.382
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GAA
allele G
frequency
sift TOLERATED
HuRef 1103645390987
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.



Neighborrs11150843
Distance72


GET Evidence
GAA-H199R
aa_change His199Arg
aa_change_short H199R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.672802
summary



ClinVar
Risk rs1042393(G;G)
Alt rs1042393(G;G)
Reference rs1042393(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene GAA
CLNDBN not specified
Reversed 0
HGVS NC_000017.10:g.78079597A>G
CLNSRC ClinVar Emory University
CLNACC RCV000078183.5,