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rs1800309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800309(A;A)
Make rs1800309(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80113242
GeneGAA
is asnp
is mentioned by
dbSNPrs1800309
dbSNP (classic)rs1800309
ClinGenrs1800309
ebirs1800309
HLIrs1800309
Exacrs1800309
Gnomadrs1800309
Varsomers1800309
LitVarrs1800309
Maprs1800309
PheGenIrs1800309
Biobankrs1800309
1000 genomesrs1800309
hgdprs1800309
ensemblrs1800309
geneviewrs1800309
scholarrs1800309
googlers1800309
pharmgkbrs1800309
gwascentralrs1800309
openSNPrs1800309
23andMers1800309
SNPshotrs1800309
SNPdbers1800309
MSV3drs1800309
GWAS Ctlgrs1800309
GMAF0.09045
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM606800
DescACID ALPHA-GLUCOSIDASE, ALLELE 4
Variant0011
Relatedalso



ClinVar
Risk rs1800309(A;A)
Alt rs1800309(A;A)
Reference Rs1800309(G;G)
Significance Other
Disease Acid alpha-glucosidase not specified Glycogen storage disease
Variation info
Gene GAA
CLNDBN Acid alpha-glucosidase, allele 4 not specified Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78087041G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004245.1, RCV000078165.9, RCV000383641.1,