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rs1057521801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057521801(C;C)
Make rs1057521801(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80213876
GeneSGSH
is asnp
is mentioned by
dbSNPrs1057521801
dbSNP (classic)rs1057521801
ClinGenrs1057521801
ebirs1057521801
HLIrs1057521801
Exacrs1057521801
Gnomadrs1057521801
Varsomers1057521801
LitVarrs1057521801
Maprs1057521801
PheGenIrs1057521801
Biobankrs1057521801
1000 genomesrs1057521801
hgdprs1057521801
ensemblrs1057521801
geneviewrs1057521801
scholarrs1057521801
googlers1057521801
pharmgkbrs1057521801
gwascentralrs1057521801
openSNPrs1057521801
23andMers1057521801
23andMe allrs1057521801
SNPshotrs1057521801
SNPdbers1057521801
MSV3drs1057521801
GWAS Ctlgrs1057521801
Max Magnitude0
ClinVar
Risk rs1057521801(C;C)
Alt rs1057521801(C;C)
Reference Rs1057521801(T;T)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene SGSH
CLNDBN not provided Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000017.10:g.78187675A>G
CLNSRC
CLNACC RCV000426187.1, RCV000489872.1,