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rs118204448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204448(A;A)
Make rs118204448(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88835240
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204448
ebirs118204448
HLIrs118204448
Exacrs118204448
Varsomers118204448
Maprs118204448
PheGenIrs118204448
hapmaprs118204448
1000 genomesrs118204448
hgdprs118204448
ensemblrs118204448
gopubmedrs118204448
geneviewrs118204448
scholarrs118204448
googlers118204448
pharmgkbrs118204448
gwascentralrs118204448
openSNPrs118204448
23andMers118204448
23andMe allrs118204448
SNP Nexus

SNPshotrs118204448
SNPdbers118204448
MSV3drs118204448
GWAS Ctlgrs118204448
Max Magnitude0
OMIM612222
Desc
Variant0015
Relatedalso
ClinVar
Risk rs118204448(A;A)
Alt rs118204448(A;A)
Reference rs118204448(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88901648C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000742.3,