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rs398123430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123430(C;T)
Make rs398123430(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88824834
GeneGALNS
is asnp
is mentioned by
dbSNPrs398123430
ebirs398123430
HLIrs398123430
Exacrs398123430
Varsomers398123430
Maprs398123430
PheGenIrs398123430
hapmaprs398123430
1000 genomesrs398123430
hgdprs398123430
ensemblrs398123430
gopubmedrs398123430
geneviewrs398123430
scholarrs398123430
googlers398123430
pharmgkbrs398123430
gwascentralrs398123430
openSNPrs398123430
23andMers398123430
23andMe allrs398123430
SNP Nexus

SNPshotrs398123430
SNPdbers398123430
MSV3drs398123430
GWAS Ctlgrs398123430
Max Magnitude0
ClinVar
Risk rs398123430(T;T)
Alt rs398123430(T;T)
Reference rs398123430(C;C)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88891242G>A
CLNSRC HGMD
CLNACC RCV000079021.3, RCV000174007.1,