Rs118204443

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