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rs372893383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372893383(C;T)
Make rs372893383(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88814449
GeneGALNS
is asnp
is mentioned by
dbSNPrs372893383
ebirs372893383
HLIrs372893383
Exacrs372893383
Varsomers372893383
Maprs372893383
PheGenIrs372893383
hapmaprs372893383
1000 genomesrs372893383
hgdprs372893383
ensemblrs372893383
gopubmedrs372893383
geneviewrs372893383
scholarrs372893383
googlers372893383
pharmgkbrs372893383
gwascentralrs372893383
openSNPrs372893383
23andMers372893383
23andMe allrs372893383
SNP Nexus

SNPshotrs372893383
SNPdbers372893383
MSV3drs372893383
GWAS Ctlgrs372893383
Max Magnitude0
ClinVar
Risk rs372893383(T;T)
Alt rs372893383(T;T)
Reference rs372893383(C;C)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-A
Reversed 0
HGVS NC_000016.9:g.88880857C>T
CLNSRC ClinVar Emory University
CLNACC RCV000079029.3, RCV000174686.1,