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rs118204024

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204024(C;C)
Make rs118204024(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42536414
GeneNAGLU
is asnp
is mentioned by
dbSNPrs118204024
ebirs118204024
HLIrs118204024
Exacrs118204024
Varsomers118204024
Maprs118204024
PheGenIrs118204024
hapmaprs118204024
1000 genomesrs118204024
hgdprs118204024
ensemblrs118204024
gopubmedrs118204024
geneviewrs118204024
scholarrs118204024
googlers118204024
pharmgkbrs118204024
gwascentralrs118204024
openSNPrs118204024
23andMers118204024
23andMe allrs118204024
SNP Nexus

SNPshotrs118204024
SNPdbers118204024
MSV3drs118204024
GWAS Ctlgrs118204024
Max Magnitude0
OMIM609701
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118204024(C;C)
Alt rs118204024(C;C)
Reference rs118204024(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40688432T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001635.4,