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rs104894639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894639(A;A)
Make rs104894639(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80210622
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894639
ebirs104894639
HLIrs104894639
Exacrs104894639
Varsomers104894639
Maprs104894639
PheGenIrs104894639
hapmaprs104894639
1000 genomesrs104894639
hgdprs104894639
ensemblrs104894639
gopubmedrs104894639
geneviewrs104894639
scholarrs104894639
googlers104894639
pharmgkbrs104894639
gwascentralrs104894639
openSNPrs104894639
23andMers104894639
23andMe allrs104894639
SNP Nexus

SNPshotrs104894639
SNPdbers104894639
MSV3drs104894639
GWAS Ctlgrs104894639
Max Magnitude0
OMIM605270
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894639(A;A)
Alt rs104894639(A;A)
Reference rs104894639(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A not provided
Reversed 1
HGVS NC_000017.10:g.78184421C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005421.3, RCV000153943.3,