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rs746756997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs746756997(A;C)
Make rs746756997(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position88832047
GeneGALNS
is asnp
is mentioned by
dbSNPrs746756997
dbSNP (classic)rs746756997
ClinGenrs746756997
ebirs746756997
HLIrs746756997
Exacrs746756997
Gnomadrs746756997
Varsomers746756997
LitVarrs746756997
Maprs746756997
PheGenIrs746756997
Biobankrs746756997
1000 genomesrs746756997
hgdprs746756997
ensemblrs746756997
geneviewrs746756997
scholarrs746756997
googlers746756997
pharmgkbrs746756997
gwascentralrs746756997
openSNPrs746756997
23andMers746756997
SNPshotrs746756997
SNPdbers746756997
MSV3drs746756997
GWAS Ctlgrs746756997
Max Magnitude0
ClinVar
Risk rs746756997(C;C)
Alt rs746756997(C;C)
Reference Rs746756997(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 0
HGVS NC_000016.9:g.88898455A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000180514.1,