Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894597(C;T)
Make rs104894597(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42543699
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894597
ebirs104894597
HLIrs104894597
Exacrs104894597
Varsomers104894597
Maprs104894597
PheGenIrs104894597
hapmaprs104894597
1000 genomesrs104894597
hgdprs104894597
ensemblrs104894597
gopubmedrs104894597
geneviewrs104894597
scholarrs104894597
googlers104894597
pharmgkbrs104894597
gwascentralrs104894597
openSNPrs104894597
23andMers104894597
23andMe allrs104894597
SNP Nexus

SNPshotrs104894597
SNPdbers104894597
MSV3drs104894597
GWAS Ctlgrs104894597
Max Magnitude0
OMIM609701
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894597(T;T)
Alt rs104894597(T;T)
Reference rs104894597(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40695717C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001633.4,