{{Rsnum
|rsid=7503034
|Gene=SGSH
|Chromosome=17
|position=80210594
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3264
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SGSH
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 50.4 | 43.4 | 6.2
| HCB | 39.4 | 46.7 | 13.9
| JPT | 51.3 | 39.8 | 8.8
| YRI | 58.9 | 37.0 | 4.1
| ASW | 66.7 | 24.6 | 8.8
| CHB | 39.4 | 46.7 | 13.9
| CHD | 37.6 | 44.0 | 18.3
| GIH | 38.6 | 47.5 | 13.9
| LWK | 65.5 | 29.1 | 5.5
| MEX | 27.6 | 51.7 | 20.7
| MKK | 60.0 | 33.5 | 6.5
| TSI | 37.3 | 52.0 | 10.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=7503034
|allele=T
|frequency=0.225
|uid=1103645391253
|type=homozygous_SNP
|hugo=SGSH
|ensembl gene=ENSG00000181523
|ensembl transcript=ENST00000326317
|sift=TOLERATED
|disease=Defects in SGSH are the cause of mucopolysaccharidosis type IIIA (MPS-IIIA) (MIM:252900); also known as Sanfilippo syndrome A. MPS-IIIA is an autosomal recessive disorder whose clinical features are severe mental defect (progressive dementia, delayed speech, sleep disturbances and aggressive behaviour) with relatively mild somatic features. It affects 1 in 24000 individuals (estimated in the netherlands and united kingdom), with considerable variation in severity of clinical phenotype. Particularly high incidence and severity of the disease are found in the cayman islands.
}}

{{GET Evidence
|gene=SGSH
|aa_change=Arg456His
|aa_change_short=R456H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7503034
|overall_frequency_n=3154
|overall_frequency_d=10758
|overall_frequency=0.293177
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=4
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}