{{Rsnum
|rsid=3740129
|Gene=CHST3
|Chromosome=10
|position=73767859
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.287
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{Venter SNP
|rsid=3740129
|allele=A
|frequency=
|uid=1103649977709
|type=homozygous_SNP
|hugo=CHST3
|ensembl gene=ENSG00000122863
|ensembl transcript=ENST00000242466
|sift=TOLERATED
|disease=Defects in CHST3 are the cause of spondyloepiphyseal dysplasia Omani type (SED Omani type) (MIM:608637). SED Omani type is an autosomal recessive disorder characterized by normal length at birth but severely reduced adult height (110-130 cm), severe progressive kyphoscoliosis, arthritic changes with joint dislocations, genu valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia and normal intelligence. As a consequence of the arthropathy and the contractures, affected individuals develop restricted joint movement.
}}
{{ neighbor
| rsid = 28937593
| distance = 159
}}

{{GET Evidence
|gene=CHST3
|aa_change=Arg357Gln
|aa_change_short=R357Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3740129
|overall_frequency_n=2990
|overall_frequency_d=8332
|overall_frequency=0.358857
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.007
|nblosum100=0
|autoscore=1
|n_web_uneval=2
}}

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