Rs118204447

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204447(A;A)
Make rs118204447(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88842772
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204447
PheGenIrs118204447
nextbiors118204447
hapmaprs118204447
1000 genomesrs118204447
hgdprs118204447
ensemblrs118204447
gopubmedrs118204447
geneviewrs118204447
scholarrs118204447
googlers118204447
pharmgkbrs118204447
gwascentralrs118204447
openSNPrs118204447
23andMers118204447
23andMe allrs118204447
SNP Nexus

SNPshotrs118204447
SNPdbers118204447
MSV3drs118204447
Max Magnitude0
OMIM612222
Desc
Variant0014
Relatedalso
ClinVar
Risk rs118204447(A;A)
Alt rs118204447(A;A)
Reference rs118204447(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88909180C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000749.1,