{{Rsnum
|rsid=2229491
|Gene=HSPG2
|Chromosome=1
|position=21842308
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.07759
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HSPG2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 85.9 | 14.1 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 54.4 | 45.6 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2229491
|allele=C
|frequency=0.068
|uid=1103675043251
|type=heterozygous_SNP
|hugo=HSPG2
|ensembl gene=ENSG00000142798
|ensembl transcript=ENST00000374695
|sift=TOLERATED
|disease=Defects in HSPG2 are the cause of dyssegmental dysplasia Silverman-Handmaker type (DDSH) (MIM:224410). The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage.
}}

{{ neighbor
| rsid = 2229489
| distance = 44
}}

{{GET Evidence
|gene=HSPG2
|aa_change=Ser2995Gly
|aa_change_short=S2995G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2229491
|overall_frequency_n=1239
|overall_frequency_d=10758
|overall_frequency=0.11517
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}