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rs778700037

From SNPedia

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Geno Mag Summary
(-;G) 3 Carrier of a Sanfilippo syndrome type A mutation
Make rs778700037(-;-)
Make rs778700037(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80210933
GeneSGSH
is asnp
is mentioned by
dbSNPrs778700037
ClinGenrs778700037
ebirs778700037
HLIrs778700037
Exacrs778700037
Varsomers778700037
Maprs778700037
PheGenIrs778700037
hapmaprs778700037
1000 genomesrs778700037
hgdprs778700037
ensemblrs778700037
gopubmedrs778700037
geneviewrs778700037
scholarrs778700037
googlers778700037
pharmgkbrs778700037
gwascentralrs778700037
openSNPrs778700037
23andMers778700037
23andMe allrs778700037
SNP Nexus

SNPshotrs778700037
SNPdbers778700037
MSV3drs778700037
GWAS Ctlgrs778700037
Max Magnitude3
ClinVar
Risk rs778700037(G;G)
Alt rs778700037(G;G)
Reference Rs778700037(;)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 0
HGVS NC_000017.10:g.78184733dupG
CLNSRC
CLNACC RCV000180105.1,