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rs104894601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894601(C;T)
Make rs104894601(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42538691
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894601
ebirs104894601
HLIrs104894601
Exacrs104894601
Varsomers104894601
Maprs104894601
PheGenIrs104894601
hapmaprs104894601
1000 genomesrs104894601
hgdprs104894601
ensemblrs104894601
gopubmedrs104894601
geneviewrs104894601
scholarrs104894601
googlers104894601
pharmgkbrs104894601
gwascentralrs104894601
openSNPrs104894601
23andMers104894601
23andMe allrs104894601
SNP Nexus

SNPshotrs104894601
SNPdbers104894601
MSV3drs104894601
GWAS Ctlgrs104894601
Max Magnitude0
OMIM609701
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894601(T;T)
Alt rs104894601(T;T)
Reference rs104894601(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40690709C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001638.5,