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rs118204437

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204437(C;T)
Make rs118204437(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88824853
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204437
ebirs118204437
HLIrs118204437
Exacrs118204437
Varsomers118204437
Maprs118204437
PheGenIrs118204437
hapmaprs118204437
1000 genomesrs118204437
hgdprs118204437
ensemblrs118204437
gopubmedrs118204437
geneviewrs118204437
scholarrs118204437
googlers118204437
pharmgkbrs118204437
gwascentralrs118204437
openSNPrs118204437
23andMers118204437
23andMe allrs118204437
SNP Nexus

SNPshotrs118204437
SNPdbers118204437
MSV3drs118204437
GWAS Ctlgrs118204437
Max Magnitude0
OMIM612222
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118204437(T;T)
Alt rs118204437(T;T)
Reference rs118204437(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A not provided
Reversed 1
HGVS NC_000016.9:g.88891261G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000735.4, RCV000079019.3,