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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
ebirs1800309
HLIrs1800309
Exacrs1800309
Varsomers1800309
Maprs1800309
PheGenIrs1800309
hapmaprs1800309
1000 genomesrs1800309
hgdprs1800309
ensemblrs1800309
gopubmedrs1800309
geneviewrs1800309
scholarrs1800309
googlers1800309
pharmgkbrs1800309
gwascentralrs1800309
openSNPrs1800309
23andMers1800309
23andMe allrs1800309
SNP Nexus

SNPshotrs1800309
SNPdbers1800309
MSV3drs1800309
GWAS Ctlgrs1800309
GMAF0.09045
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM606800
DescACID ALPHA-GLUCOSIDASE, ALLELE 4
Variant0011
Relatedalso
Neighborrs28940868
Distance320
Neighborrs28939100
Distance108


ClinVar
Risk rs1800309(A;A)
Alt rs1800309(A;A)
Reference rs1800309(G;G)
Significance Other
Disease Acid alpha-glucosidase not specified
Variation info
Gene GAA
CLNDBN Acid alpha-glucosidase, allele 4 not specified
Reversed 0
HGVS NC_000017.10:g.78087041G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004245.1, RCV000078165.8,



GET Evidence
GAA-E689K
aa_change Glu689Lys
aa_change_short E689K
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0301845
summary This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect.