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rs104894600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894600(C;C)
Make rs104894600(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42541125
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894600
ebirs104894600
HLIrs104894600
Exacrs104894600
Varsomers104894600
Maprs104894600
PheGenIrs104894600
hapmaprs104894600
1000 genomesrs104894600
hgdprs104894600
ensemblrs104894600
gopubmedrs104894600
geneviewrs104894600
scholarrs104894600
googlers104894600
pharmgkbrs104894600
gwascentralrs104894600
openSNPrs104894600
23andMers104894600
23andMe allrs104894600
SNP Nexus

SNPshotrs104894600
SNPdbers104894600
MSV3drs104894600
GWAS Ctlgrs104894600
Max Magnitude0
OMIM609701
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894600(C;C)
Alt rs104894600(C;C)
Reference rs104894600(T;T)
Significance Untested
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40693143T>C
CLNSRC OMIM Allelic Variant
CLNACC SCV000021792.1, SCV000021792.1,