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rs398123439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123439(A;A)
Make rs398123439(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88837711
GeneGALNS
is asnp
is mentioned by
dbSNPrs398123439
ebirs398123439
HLIrs398123439
Exacrs398123439
Varsomers398123439
Maprs398123439
PheGenIrs398123439
hapmaprs398123439
1000 genomesrs398123439
hgdprs398123439
ensemblrs398123439
gopubmedrs398123439
geneviewrs398123439
scholarrs398123439
googlers398123439
pharmgkbrs398123439
gwascentralrs398123439
openSNPrs398123439
23andMers398123439
23andMe allrs398123439
SNP Nexus

SNPshotrs398123439
SNPdbers398123439
MSV3drs398123439
GWAS Ctlgrs398123439
Max Magnitude0
ClinVar
Risk rs398123439(A;A)
Alt rs398123439(A;A)
Reference rs398123439(G;G)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88904119C>T
CLNSRC ClinVar Emory University
CLNACC RCV000079037.3, RCV000178782.1,