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rs483352897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGAGCGGCCA;GGAGCGGCCA) 0 common in clinvar
Make rs483352897(-;-)
Make rs483352897(-;GGAGCGGCCA)
ReferenceGRCh38 38.1/142
Chromosome17
Position42537517
GeneNAGLU
is asnp
is mentioned by
dbSNPrs483352897
ebirs483352897
HLIrs483352897
Exacrs483352897
Varsomers483352897
Maprs483352897
PheGenIrs483352897
hapmaprs483352897
1000 genomesrs483352897
hgdprs483352897
ensemblrs483352897
gopubmedrs483352897
geneviewrs483352897
scholarrs483352897
googlers483352897
pharmgkbrs483352897
gwascentralrs483352897
openSNPrs483352897
23andMers483352897
23andMe allrs483352897
SNP Nexus

SNPshotrs483352897
SNPdbers483352897
MSV3drs483352897
GWAS Ctlgrs483352897
Max Magnitude0
ClinVar
Risk rs483352897(;)
Alt rs483352897(;)
Reference rs483352897(GGAGCGGCCA;GGAGCGGCCA)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40689535_40689544delGGAGCGGCCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001630.4,