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rs797044751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044751(-;A)
Make rs797044751(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position42541129
GeneNAGLU
is asnp
is mentioned by
dbSNPrs797044751
dbSNP (old)rs797044751
ClinGenrs797044751
ebirs797044751
HLIrs797044751
Exacrs797044751
Gnomadrs797044751
Varsomers797044751
Maprs797044751
PheGenIrs797044751
Biobankrs797044751
1000 genomesrs797044751
hgdprs797044751
ensemblrs797044751
gopubmedrs797044751
geneviewrs797044751
scholarrs797044751
googlers797044751
pharmgkbrs797044751
gwascentralrs797044751
openSNPrs797044751
23andMers797044751
23andMe allrs797044751
SNP Nexus

SNPshotrs797044751
SNPdbers797044751
MSV3drs797044751
GWAS Ctlgrs797044751
Max Magnitude0
ClinVar
Risk rs797044751(A;A)
Alt rs797044751(A;A)
Reference Rs797044751(-;-)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40693147dupA
CLNSRC
CLNACC RCV000178741.1,