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rs104894592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894592(C;T)
Make rs104894592(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42541074
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894592
ebirs104894592
HLIrs104894592
Exacrs104894592
Varsomers104894592
Maprs104894592
PheGenIrs104894592
hapmaprs104894592
1000 genomesrs104894592
hgdprs104894592
ensemblrs104894592
gopubmedrs104894592
geneviewrs104894592
scholarrs104894592
googlers104894592
pharmgkbrs104894592
gwascentralrs104894592
openSNPrs104894592
23andMers104894592
23andMe allrs104894592
SNP Nexus

SNPshotrs104894592
SNPdbers104894592
MSV3drs104894592
GWAS Ctlgrs104894592
Max Magnitude0
OMIM609701
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894592(T;T)
Alt rs104894592(T;T)
Reference rs104894592(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40693092C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001628.4,