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rs527236038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236038(G;T)
Make rs527236038(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position42543952
GeneNAGLU
is asnp
is mentioned by
dbSNPrs527236038
ebirs527236038
HLIrs527236038
Exacrs527236038
Varsomers527236038
Maprs527236038
PheGenIrs527236038
hapmaprs527236038
1000 genomesrs527236038
hgdprs527236038
ensemblrs527236038
gopubmedrs527236038
geneviewrs527236038
scholarrs527236038
googlers527236038
pharmgkbrs527236038
gwascentralrs527236038
openSNPrs527236038
23andMers527236038
23andMe allrs527236038
SNP Nexus

SNPshotrs527236038
SNPdbers527236038
MSV3drs527236038
GWAS Ctlgrs527236038
Max Magnitude0
ClinVar
Risk rs527236038(C,T;C,T)
Alt rs527236038(C,T;C,T)
Reference rs527236038(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40695970G>T
CLNSRC ClinVar
CLNACC RCV000132721.1,