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rs201958741

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201958741(C;T)
Make rs201958741(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position81577999
GeneGBE1
is asnp
is mentioned by
dbSNPrs201958741
ebirs201958741
HLIrs201958741
Exacrs201958741
Varsomers201958741
Maprs201958741
PheGenIrs201958741
hapmaprs201958741
1000 genomesrs201958741
hgdprs201958741
ensemblrs201958741
gopubmedrs201958741
geneviewrs201958741
scholarrs201958741
googlers201958741
pharmgkbrs201958741
gwascentralrs201958741
openSNPrs201958741
23andMers201958741
23andMe allrs201958741
SNP Nexus

SNPshotrs201958741
SNPdbers201958741
MSV3drs201958741
GWAS Ctlgrs201958741
Max Magnitude0
ClinVar
Risk rs201958741(T;T)
Alt rs201958741(T;T)
Reference rs201958741(C;C)
Significance Pathogenic
Disease Adult polyglucosan body neuropathy
Variation info
Gene GBE1
CLNDBN Adult polyglucosan body neuropathy
Reversed 0
HGVS NC_000003.11:g.81627150C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000157612.4,