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rs104894640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894640(A;A)
Make rs104894640(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80210856
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894640
ebirs104894640
HLIrs104894640
Exacrs104894640
Varsomers104894640
Maprs104894640
PheGenIrs104894640
hapmaprs104894640
1000 genomesrs104894640
hgdprs104894640
ensemblrs104894640
gopubmedrs104894640
geneviewrs104894640
scholarrs104894640
googlers104894640
pharmgkbrs104894640
gwascentralrs104894640
openSNPrs104894640
23andMers104894640
23andMe allrs104894640
SNP Nexus

SNPshotrs104894640
SNPdbers104894640
MSV3drs104894640
GWAS Ctlgrs104894640
Max Magnitude0
OMIM605270
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894640(A,C;A,C)
Alt rs104894640(A,C;A,C)
Reference rs104894640(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.78184655C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005424.4, RCV000078349.3,