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rs104894596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894596(C;T)
Make rs104894596(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42543450
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894596
dbSNP (old)rs104894596
ClinGenrs104894596
ebirs104894596
HLIrs104894596
Exacrs104894596
Varsomers104894596
Maprs104894596
PheGenIrs104894596
Biobankrs104894596
1000 genomesrs104894596
hgdprs104894596
ensemblrs104894596
gopubmedrs104894596
geneviewrs104894596
scholarrs104894596
googlers104894596
pharmgkbrs104894596
gwascentralrs104894596
openSNPrs104894596
23andMers104894596
23andMe allrs104894596
SNP Nexus

SNPshotrs104894596
SNPdbers104894596
MSV3drs104894596
GWAS Ctlgrs104894596
Max Magnitude0
OMIM609701
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894596(T;T)
Alt rs104894596(T;T)
Reference Rs104894596(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40695468C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001637.4,