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rs28937909

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937909(A;A)
Make rs28937909(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80112914
GeneGAA
is asnp
is mentioned by
dbSNPrs28937909
ebirs28937909
HLIrs28937909
Exacrs28937909
Varsomers28937909
Maprs28937909
PheGenIrs28937909
hapmaprs28937909
1000 genomesrs28937909
hgdprs28937909
ensemblrs28937909
gopubmedrs28937909
geneviewrs28937909
scholarrs28937909
googlers28937909
pharmgkbrs28937909
gwascentralrs28937909
openSNPrs28937909
23andMers28937909
23andMe allrs28937909
SNP Nexus

SNPshotrs28937909
SNPdbers28937909
MSV3drs28937909
GWAS Ctlgrs28937909
Max Magnitude0
OMIM606800
DescGLYCOGEN STORAGE DISEASE II, ADULT FORM
Variant0004
Relatedalso
Neighborrs28940868
Distance8


ClinVar
Risk rs28937909(A,T;A,T)
Alt rs28937909(A,T;A,T)
Reference rs28937909(G;G)
Significance Pathogenic
Disease Glycogen storage disease II
Variation info
Gene GAA
CLNDBN Glycogen storage disease II, adult form
Reversed 0
HGVS NC_000017.10:g.78086713G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004238.4,