Rs118204443

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Orientationminus
is asnp
is mentioned by
dbSNPrs118204443
PheGenIrs118204443
nextbiors118204443
hapmaprs118204443
1000 genomesrs118204443
hgdprs118204443
ensemblrs118204443
gopubmedrs118204443
geneviewrs118204443
scholarrs118204443
googlers118204443
pharmgkbrs118204443
gwascentralrs118204443
openSNPrs118204443
23andMers118204443
23andMe allrs118204443
SNP Nexus

SNPshotrs118204443
SNPdbers118204443
MSV3drs118204443
GeneGALNS
Chromosome16
Orientationminus
GMAF0.0004591
Position88832099
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204443(G;T)
Make rs118204443(T;T)
OMIM612222
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118204443(T;T)
Alt rs118204443(T;T)
Reference rs118204443(G;G)
Significance 5
Disease Mucopolysaccharidosis, not provided
ClinVar info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A, not provided
Reversed 1
CLNHGVS NC_000016.9:g.88898507C>A
CLNSRC Emory University, OMIM Allelic Variant
CLNACC RCV000000743.1, RCV000079046.1