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rs104894638

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894638(A;A)
Make rs104894638(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80214672
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894638
ebirs104894638
HLIrs104894638
Exacrs104894638
Varsomers104894638
Maprs104894638
PheGenIrs104894638
hapmaprs104894638
1000 genomesrs104894638
hgdprs104894638
ensemblrs104894638
gopubmedrs104894638
geneviewrs104894638
scholarrs104894638
googlers104894638
pharmgkbrs104894638
gwascentralrs104894638
openSNPrs104894638
23andMers104894638
23andMe allrs104894638
SNP Nexus

SNPshotrs104894638
SNPdbers104894638
MSV3drs104894638
GWAS Ctlgrs104894638
Max Magnitude0
OMIM605270
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894638(A;A)
Alt rs104894638(A;A)
Reference rs104894638(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000017.10:g.78188471C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005420.3,