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rs104894598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894598(C;C)
Make rs104894598(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42543700
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894598
ebirs104894598
HLIrs104894598
Exacrs104894598
Varsomers104894598
Maprs104894598
PheGenIrs104894598
hapmaprs104894598
1000 genomesrs104894598
hgdprs104894598
ensemblrs104894598
gopubmedrs104894598
geneviewrs104894598
scholarrs104894598
googlers104894598
pharmgkbrs104894598
gwascentralrs104894598
openSNPrs104894598
23andMers104894598
23andMe allrs104894598
SNP Nexus

SNPshotrs104894598
SNPdbers104894598
MSV3drs104894598
GWAS Ctlgrs104894598
Max Magnitude0
OMIM609701
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894598(A,C,T;A,C,T)
Alt rs104894598(A,C,T;A,C,T)
Reference rs104894598(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40695718G>A; NC_000017.10:g.40695718G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023780.5, RCV000001634.4,