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rs374621913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374621913(A;A)
Make rs374621913(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80213852
GeneSGSH
is asnp
is mentioned by
dbSNPrs374621913
dbSNP (classic)rs374621913
ClinGenrs374621913
ebirs374621913
HLIrs374621913
Exacrs374621913
Gnomadrs374621913
Varsomers374621913
LitVarrs374621913
Maprs374621913
PheGenIrs374621913
Biobankrs374621913
1000 genomesrs374621913
hgdprs374621913
ensemblrs374621913
geneviewrs374621913
scholarrs374621913
googlers374621913
pharmgkbrs374621913
gwascentralrs374621913
openSNPrs374621913
23andMers374621913
SNPshotrs374621913
SNPdbers374621913
MSV3drs374621913
GWAS Ctlgrs374621913
Max Magnitude0
ClinVar
Risk rs374621913(A;A) rs374621913(C;C)
Alt rs374621913(A;A) rs374621913(C;C)
Reference Rs374621913(G;G)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 0
HGVS NC_000017.10:g.78187651G>A
CLNSRC
CLNACC RCV000409562.1,