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rs104894590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894590(A;A)
Make rs104894590(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42544027
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894590
ebirs104894590
HLIrs104894590
Exacrs104894590
Varsomers104894590
Maprs104894590
PheGenIrs104894590
hapmaprs104894590
1000 genomesrs104894590
hgdprs104894590
ensemblrs104894590
gopubmedrs104894590
geneviewrs104894590
scholarrs104894590
googlers104894590
pharmgkbrs104894590
gwascentralrs104894590
openSNPrs104894590
23andMers104894590
23andMe allrs104894590
SNP Nexus

SNPshotrs104894590
SNPdbers104894590
MSV3drs104894590
GWAS Ctlgrs104894590
Max Magnitude0
OMIM609701
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894590(A;A)
Alt rs104894590(A;A)
Reference rs104894590(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B not provided
Reversed 0
HGVS NC_000017.10:g.40696045G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001626.3, RCV000078455.4,