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rs104894643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894643(C;C)
Make rs104894643(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80214218
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894643
ebirs104894643
HLIrs104894643
Exacrs104894643
Varsomers104894643
Maprs104894643
PheGenIrs104894643
hapmaprs104894643
1000 genomesrs104894643
hgdprs104894643
ensemblrs104894643
gopubmedrs104894643
geneviewrs104894643
scholarrs104894643
googlers104894643
pharmgkbrs104894643
gwascentralrs104894643
openSNPrs104894643
23andMers104894643
23andMe allrs104894643
SNP Nexus

SNPshotrs104894643
SNPdbers104894643
MSV3drs104894643
GWAS Ctlgrs104894643
Max Magnitude0
OMIM605270
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894643(A,C;A,C)
Alt rs104894643(A,C;A,C)
Reference rs104894643(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000017.10:g.78188017C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005425.3,