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rs143947056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a Sanfilippo syndrome type A mutation
(G;G) 0 common in clinvar


Make rs143947056(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position80212143
GeneSGSH
is asnp
is mentioned by
dbSNPrs143947056
dbSNP (old)rs143947056
ClinGenrs143947056
ebirs143947056
HLIrs143947056
Exacrs143947056
Gnomadrs143947056
Varsomers143947056
Maprs143947056
PheGenIrs143947056
Biobankrs143947056
1000 genomesrs143947056
hgdprs143947056
ensemblrs143947056
gopubmedrs143947056
geneviewrs143947056
scholarrs143947056
googlers143947056
pharmgkbrs143947056
gwascentralrs143947056
openSNPrs143947056
23andMers143947056
23andMe allrs143947056
SNPshotrs143947056
SNPdbers143947056
MSV3drs143947056
GWAS Ctlgrs143947056
Max Magnitude3
ClinVar
Risk rs143947056(A;A)
Alt rs143947056(A;A)
Reference Rs143947056(G;G)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene SGSH
CLNDBN not provided Mucopolysaccharidosis, MPS-III-A
Reversed 0
HGVS NC_000017.10:g.78185942G>A
CLNSRC
CLNACC RCV000255725.1, RCV000409289.1,