Rs118204440

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118204440(A;G)
Make rs118204440(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88818029
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204440
Exacrs118204440
PheGenIrs118204440
nextbiors118204440
hapmaprs118204440
1000 genomesrs118204440
hgdprs118204440
ensemblrs118204440
gopubmedrs118204440
geneviewrs118204440
scholarrs118204440
googlers118204440
pharmgkbrs118204440
gwascentralrs118204440
openSNPrs118204440
23andMers118204440
23andMe allrs118204440
SNP Nexus

SNPshotrs118204440
SNPdbers118204440
MSV3drs118204440
Max Magnitude0
OMIM612222
Desc
Variant0007
Relatedalso
ClinVar
Risk rs118204440(G;G)
Alt rs118204440(G;G)
Reference rs118204440(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88884437T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000736.1,