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rs527236037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236037(A;A)
Make rs527236037(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position42543955
GeneNAGLU
is asnp
is mentioned by
dbSNPrs527236037
dbSNP (classic)rs527236037
ClinGenrs527236037
ebirs527236037
HLIrs527236037
Exacrs527236037
Gnomadrs527236037
Varsomers527236037
LitVarrs527236037
Maprs527236037
PheGenIrs527236037
Biobankrs527236037
1000 genomesrs527236037
hgdprs527236037
ensemblrs527236037
geneviewrs527236037
scholarrs527236037
googlers527236037
pharmgkbrs527236037
gwascentralrs527236037
openSNPrs527236037
23andMers527236037
SNPshotrs527236037
SNPdbers527236037
MSV3drs527236037
GWAS Ctlgrs527236037
Max Magnitude0
ClinVar
Risk rs527236037(A;A)
Alt rs527236037(A;A)
Reference Rs527236037(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40695973G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000132722.1,