Rs118204449

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204449(A;A)
Make rs118204449(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88835794
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204449
Exacrs118204449
PheGenIrs118204449
nextbiors118204449
hapmaprs118204449
1000 genomesrs118204449
hgdprs118204449
ensemblrs118204449
gopubmedrs118204449
geneviewrs118204449
scholarrs118204449
googlers118204449
pharmgkbrs118204449
gwascentralrs118204449
openSNPrs118204449
23andMers118204449
23andMe allrs118204449
SNP Nexus

SNPshotrs118204449
SNPdbers118204449
MSV3drs118204449
Max Magnitude0
OMIM612222
Desc
Variant0016
Relatedalso
ClinVar
Risk rs118204449(A;A)
Alt rs118204449(A;A)
Reference rs118204449(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88902202C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000746.1,