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rs398123440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123440(A;A)
Make rs398123440(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position88835779
GeneGALNS
is asnp
is mentioned by
dbSNPrs398123440
ebirs398123440
HLIrs398123440
Exacrs398123440
Varsomers398123440
Maprs398123440
PheGenIrs398123440
hapmaprs398123440
1000 genomesrs398123440
hgdprs398123440
ensemblrs398123440
gopubmedrs398123440
geneviewrs398123440
scholarrs398123440
googlers398123440
pharmgkbrs398123440
gwascentralrs398123440
openSNPrs398123440
23andMers398123440
23andMe allrs398123440
SNP Nexus

SNPshotrs398123440
SNPdbers398123440
MSV3drs398123440
GWAS Ctlgrs398123440
Max Magnitude0
ClinVar
Risk rs398123440(A,T;A,T)
Alt rs398123440(A,T;A,T)
Reference rs398123440(C;C)
Significance Probable-Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88902187G>T
CLNSRC ClinVar Emory University
CLNACC RCV000079042.3, RCV000179764.1,