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rs104894591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894591(C;T)
Make rs104894591(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42543882
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894591
ebirs104894591
HLIrs104894591
Exacrs104894591
Varsomers104894591
Maprs104894591
PheGenIrs104894591
hapmaprs104894591
1000 genomesrs104894591
hgdprs104894591
ensemblrs104894591
gopubmedrs104894591
geneviewrs104894591
scholarrs104894591
googlers104894591
pharmgkbrs104894591
gwascentralrs104894591
openSNPrs104894591
23andMers104894591
23andMe allrs104894591
SNP Nexus

SNPshotrs104894591
SNPdbers104894591
MSV3drs104894591
GWAS Ctlgrs104894591
Max Magnitude0
OMIM609701
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894591(G,T;G,T)
Alt rs104894591(G,T;G,T)
Reference rs104894591(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B not provided
Reversed 0
HGVS NC_000017.10:g.40695900C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001627.4, RCV000153533.3,