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rs118204025

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204025(C;G)
Make rs118204025(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42541127
GeneNAGLU
is asnp
is mentioned by
dbSNPrs118204025
ebirs118204025
HLIrs118204025
Exacrs118204025
Varsomers118204025
Maprs118204025
PheGenIrs118204025
hapmaprs118204025
1000 genomesrs118204025
hgdprs118204025
ensemblrs118204025
gopubmedrs118204025
geneviewrs118204025
scholarrs118204025
googlers118204025
pharmgkbrs118204025
gwascentralrs118204025
openSNPrs118204025
23andMers118204025
23andMe allrs118204025
SNP Nexus

SNPshotrs118204025
SNPdbers118204025
MSV3drs118204025
GWAS Ctlgrs118204025
Max Magnitude0
OMIM609701
Desc
Variant0011
Relatedalso
ClinVar
Risk rs118204025(G;G)
Alt rs118204025(G;G)
Reference rs118204025(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40693145C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001636.4,