Rs118204444

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204444(C;T)
Make rs118204444(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88837703
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204444
Exacrs118204444
PheGenIrs118204444
nextbiors118204444
hapmaprs118204444
1000 genomesrs118204444
hgdprs118204444
ensemblrs118204444
gopubmedrs118204444
geneviewrs118204444
scholarrs118204444
googlers118204444
pharmgkbrs118204444
gwascentralrs118204444
openSNPrs118204444
23andMers118204444
23andMe allrs118204444
SNP Nexus

SNPshotrs118204444
SNPdbers118204444
MSV3drs118204444
OMIM612222
Desc
Variant0011
Relatedalso
ClinVar
Risk rs118204444(T;T)
Alt rs118204444(T;T)
Reference rs118204444(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88904111G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000744.1,