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rs104894593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894593(A;A)
Make rs104894593(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42543934
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894593
ebirs104894593
HLIrs104894593
Exacrs104894593
Varsomers104894593
Maprs104894593
PheGenIrs104894593
hapmaprs104894593
1000 genomesrs104894593
hgdprs104894593
ensemblrs104894593
gopubmedrs104894593
geneviewrs104894593
scholarrs104894593
googlers104894593
pharmgkbrs104894593
gwascentralrs104894593
openSNPrs104894593
23andMers104894593
23andMe allrs104894593
SNP Nexus

SNPshotrs104894593
SNPdbers104894593
MSV3drs104894593
GWAS Ctlgrs104894593
Max Magnitude0
OMIM609701
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894593(A;A)
Alt rs104894593(A;A)
Reference rs104894593(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40695952G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001629.6,