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rs104894595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894595(C;T)
Make rs104894595(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42543568
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894595
ebirs104894595
HLIrs104894595
Exacrs104894595
Varsomers104894595
Maprs104894595
PheGenIrs104894595
hapmaprs104894595
1000 genomesrs104894595
hgdprs104894595
ensemblrs104894595
gopubmedrs104894595
geneviewrs104894595
scholarrs104894595
googlers104894595
pharmgkbrs104894595
gwascentralrs104894595
openSNPrs104894595
23andMers104894595
23andMe allrs104894595
SNP Nexus

SNPshotrs104894595
SNPdbers104894595
MSV3drs104894595
GWAS Ctlgrs104894595
Max Magnitude0
OMIM609701
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894595(T;T)
Alt rs104894595(T;T)
Reference rs104894595(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40695586C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001632.4,