Rs118204446

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204446(C;G)
Make rs118204446(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88832065
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204446
PheGenIrs118204446
nextbiors118204446
hapmaprs118204446
1000 genomesrs118204446
hgdprs118204446
ensemblrs118204446
gopubmedrs118204446
geneviewrs118204446
scholarrs118204446
googlers118204446
pharmgkbrs118204446
gwascentralrs118204446
openSNPrs118204446
23andMers118204446
23andMe allrs118204446
SNP Nexus

SNPshotrs118204446
SNPdbers118204446
MSV3drs118204446
Max Magnitude0
OMIM612222
Desc
Variant0013
Relatedalso
ClinVar
Risk rs118204446(G;G)
Alt rs118204446(G;G)
Reference rs118204446(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88898473G>C
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000000748.2,