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rs2172397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2172397(A;A)
Make rs2172397(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81594016
GeneGBE1
is asnp
is mentioned by
dbSNPrs2172397
ebirs2172397
HLIrs2172397
Exacrs2172397
Varsomers2172397
Maprs2172397
PheGenIrs2172397
hapmaprs2172397
1000 genomesrs2172397
hgdprs2172397
ensemblrs2172397
gopubmedrs2172397
geneviewrs2172397
scholarrs2172397
googlers2172397
pharmgkbrs2172397
gwascentralrs2172397
openSNPrs2172397
23andMers2172397
23andMe allrs2172397
SNP Nexus

SNPshotrs2172397
SNPdbers2172397
MSV3drs2172397
GWAS Ctlgrs2172397
GMAF0.0124
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GBE1
allele C
frequency 0.983
sift TOLERATED
HuRef 1103656149810
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.



GET Evidence
GBE1-I334V
aa_change Ile334Val
aa_change_short I334V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.980359
summary