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rs2229519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2229519(A;G)
Make rs2229519(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81648979
GeneGBE1
is asnp
is mentioned by
dbSNPrs2229519
dbSNP (old)rs2229519
ClinGenrs2229519
ebirs2229519
HLIrs2229519
Exacrs2229519
Gnomadrs2229519
Varsomers2229519
Maprs2229519
PheGenIrs2229519
Biobankrs2229519
1000 genomesrs2229519
hgdprs2229519
ensemblrs2229519
gopubmedrs2229519
geneviewrs2229519
scholarrs2229519
googlers2229519
pharmgkbrs2229519
gwascentralrs2229519
openSNPrs2229519
23andMers2229519
23andMe allrs2229519
SNPshotrs2229519
SNPdbers2229519
MSV3drs2229519
GWAS Ctlgrs2229519
GMAF0.3274
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 17708757OA-icon.png] Genome bioinformatic analysis of nonsynonymous SNPs.



ClinVar
Risk rs2229519(G;G) rs2229519(T;T)
Alt rs2229519(G;G) rs2229519(T;T)
Reference Rs2229519(A;A)
Significance Non-pathogenic
Disease not specified Glycogen storage disease Polyglucosan body disease
Variation info
Gene GBE1
CLNDBN not specified Glycogen storage disease, type IV Polyglucosan body disease, adult
Reversed 1
HGVS NC_000003.11:g.81698130T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000178721.3, RCV000318439.1, RCV000375379.1,