Rs118204438

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Orientationplus
Make rs118204438(A;A)
Make rs118204438(A;T)
Make rs118204438(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88841077
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204438
Exacrs118204438
PheGenIrs118204438
nextbiors118204438
hapmaprs118204438
1000 genomesrs118204438
hgdprs118204438
ensemblrs118204438
gopubmedrs118204438
geneviewrs118204438
scholarrs118204438
googlers118204438
pharmgkbrs118204438
gwascentralrs118204438
openSNPrs118204438
23andMers118204438
23andMe allrs118204438
SNP Nexus

SNPshotrs118204438
SNPdbers118204438
MSV3drs118204438
Max Magnitude
OMIM612222
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118204438(T;T)
Alt rs118204438(T;T)
Reference rs118204438(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88907485T>A
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000000738.2,