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rs104894641

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894641(A;A)
Make rs104894641(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80210663
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894641
ebirs104894641
HLIrs104894641
Exacrs104894641
Varsomers104894641
Maprs104894641
PheGenIrs104894641
hapmaprs104894641
1000 genomesrs104894641
hgdprs104894641
ensemblrs104894641
gopubmedrs104894641
geneviewrs104894641
scholarrs104894641
googlers104894641
pharmgkbrs104894641
gwascentralrs104894641
openSNPrs104894641
23andMers104894641
23andMe allrs104894641
SNP Nexus

SNPshotrs104894641
SNPdbers104894641
MSV3drs104894641
GWAS Ctlgrs104894641
Max Magnitude0
OMIM605270
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894641(A;A)
Alt rs104894641(A;A)
Reference rs104894641(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.78184462C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005416.5, RCV000153944.2,