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rs118204442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
(G;G) 0 common in clinvar


Make rs118204442(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position88835335
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204442
dbSNP (classic)rs118204442
ClinGenrs118204442
ebirs118204442
HLIrs118204442
Exacrs118204442
Gnomadrs118204442
Varsomers118204442
LitVarrs118204442
Maprs118204442
PheGenIrs118204442
Biobankrs118204442
1000 genomesrs118204442
hgdprs118204442
ensemblrs118204442
geneviewrs118204442
scholarrs118204442
googlers118204442
pharmgkbrs118204442
gwascentralrs118204442
openSNPrs118204442
23andMers118204442
SNPshotrs118204442
SNPdbers118204442
MSV3drs118204442
GWAS Ctlgrs118204442
Max Magnitude3
OMIM612222
Desc
Variant0009
Relatedalso
ClinVar
Risk rs118204442(A;A)
Alt rs118204442(A;A)
Reference Rs118204442(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88901743C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000741.3,