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rs104894636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Sanfilippo syndrome type A mutation
Make rs104894636(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80217061
GeneSGSH
is asnp
is mentioned by
dbSNPrs104894636
ClinGenrs104894636
ebirs104894636
HLIrs104894636
Exacrs104894636
Varsomers104894636
Maprs104894636
PheGenIrs104894636
hapmaprs104894636
1000 genomesrs104894636
hgdprs104894636
ensemblrs104894636
gopubmedrs104894636
geneviewrs104894636
scholarrs104894636
googlers104894636
pharmgkbrs104894636
gwascentralrs104894636
openSNPrs104894636
23andMers104894636
23andMe allrs104894636
SNP Nexus

SNPshotrs104894636
SNPdbers104894636
MSV3drs104894636
GWAS Ctlgrs104894636
Max Magnitude3
OMIM605270
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894636(T;T)
Alt rs104894636(T;T)
Reference Rs104894636(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A not provided
Reversed 1
HGVS NC_000017.10:g.78190860G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005415.5, RCV000078354.5,