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rs1126690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1126690(A;A)
Make rs1126690(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80117606
GeneGAA
is asnp
is mentioned by
dbSNPrs1126690
ebirs1126690
HLIrs1126690
Exacrs1126690
Varsomers1126690
Maprs1126690
PheGenIrs1126690
hapmaprs1126690
1000 genomesrs1126690
hgdprs1126690
ensemblrs1126690
gopubmedrs1126690
geneviewrs1126690
scholarrs1126690
googlers1126690
pharmgkbrs1126690
gwascentralrs1126690
openSNPrs1126690
23andMers1126690
23andMe allrs1126690
SNP Nexus

SNPshotrs1126690
SNPdbers1126690
MSV3drs1126690
GWAS Ctlgrs1126690
GMAF0.3049
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GAA
allele A
frequency
sift TOLERATED
HuRef 1103645391073
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.



GET Evidence
GAA-V780I
aa_change Val780Ile
aa_change_short V780I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.731778
summary



ClinVar
Risk rs1126690(A;A)
Alt rs1126690(A;A)
Reference rs1126690(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene GAA
CLNDBN not specified
Reversed 0
HGVS NC_000017.10:g.78091405G>A
CLNSRC ClinVar Emory University
CLNACC RCV000078171.5,