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rs104894642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894642(C;T)
Make rs104894642(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position80214738
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894642
ebirs104894642
HLIrs104894642
Exacrs104894642
Varsomers104894642
Maprs104894642
PheGenIrs104894642
hapmaprs104894642
1000 genomesrs104894642
hgdprs104894642
ensemblrs104894642
gopubmedrs104894642
geneviewrs104894642
scholarrs104894642
googlers104894642
pharmgkbrs104894642
gwascentralrs104894642
openSNPrs104894642
23andMers104894642
23andMe allrs104894642
SNP Nexus

SNPshotrs104894642
SNPdbers104894642
MSV3drs104894642
GWAS Ctlgrs104894642
Max Magnitude0
OMIM605270
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894642(T;T)
Alt rs104894642(T;T)
Reference rs104894642(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000017.10:g.78188537G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005417.4,