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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
ebirs2229519
HLIrs2229519
Exacrs2229519
Varsomers2229519
Maprs2229519
PheGenIrs2229519
hapmaprs2229519
1000 genomesrs2229519
hgdprs2229519
ensemblrs2229519
gopubmedrs2229519
geneviewrs2229519
scholarrs2229519
googlers2229519
pharmgkbrs2229519
gwascentralrs2229519
openSNPrs2229519
23andMers2229519
23andMe allrs2229519
SNP Nexus

SNPshotrs2229519
SNPdbers2229519
MSV3drs2229519
GWAS Ctlgrs2229519
GMAF0.3274
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GBE1
allele C
frequency 0.342
sift AFFECT FUNCTION
HuRef 1103656149863
Disease Association Defects in GBE1 are the cause of adult polyglucosan body disease (APBD) (MIM:263570). APBD is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.



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


GET Evidence
GBE1-R190G
aa_change Arg190Gly
aa_change_short R190G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.292242
summary



ClinVar
Risk rs2229519(G;G)
Alt rs2229519(G;G)
Reference rs2229519(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene GBE1
CLNDBN not specified
Reversed 1
HGVS NC_000003.11:g.81698130T>C
CLNSRC ClinVar
CLNACC RCV000178721.1,