Rs118204439

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Orientationminus
is asnp
is mentioned by
dbSNPrs118204439
PheGenIrs118204439
nextbiors118204439
hapmaprs118204439
1000 genomesrs118204439
hgdprs118204439
ensemblrs118204439
gopubmedrs118204439
geneviewrs118204439
scholarrs118204439
googlers118204439
pharmgkbrs118204439
gwascentralrs118204439
openSNPrs118204439
23andMers118204439
23andMe allrs118204439
SNP Nexus

SNPshotrs118204439
SNPdbers118204439
MSV3drs118204439
GeneGALNS
Chromosome16
Orientationminus
Position88818072
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204439(C;T)
Make rs118204439(T;T)
OMIM612222
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118204439(G,T;G,T)
Alt rs118204439(G,T;G,T)
Reference rs118204439(C;C)
Significance 5
Disease Mucopolysaccharidosis
ClinVar info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
CLNHGVS NC_000016.9:g.88884480G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000739.1