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rs104894594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894594(C;T)
Make rs104894594(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42543933
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894594
ebirs104894594
HLIrs104894594
Exacrs104894594
Varsomers104894594
Maprs104894594
PheGenIrs104894594
hapmaprs104894594
1000 genomesrs104894594
hgdprs104894594
ensemblrs104894594
gopubmedrs104894594
geneviewrs104894594
scholarrs104894594
googlers104894594
pharmgkbrs104894594
gwascentralrs104894594
openSNPrs104894594
23andMers104894594
23andMe allrs104894594
SNP Nexus

SNPshotrs104894594
SNPdbers104894594
MSV3drs104894594
GWAS Ctlgrs104894594
Max Magnitude0
OMIM609701
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894594(T;T)
Alt rs104894594(T;T)
Reference rs104894594(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40695951C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001631.6,