{{Rsnum
|rsid=751557
|Gene=COL9A3
|Chromosome=20
|position=62832170
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.2121
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=COL9A3
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 61.9 | 33.3 | 4.8
| HCB | 86.7 | 13.3 | 0.0
| JPT | 90.9 | 9.1 | 0.0
| YRI | 22.6 | 58.1 | 19.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 86.7 | 13.3 | 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=751557
|allele=A
|frequency=
|uid=1103643240211
|type=homozygous_SNP
|hugo=COL9A3
|ensembl gene=ENSG00000092758
|ensembl transcript=ENST00000343916
|sift=TOLERATED
|disease=Defects in COL9A3 are the cause of multiple epiphyseal dysplasia 3 (EDM3) (MIM:600969); also known as multiple epiphyseal dysplasia with myopathy. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types.
}}

{{GET Evidence
|gene=COL9A3
|aa_change=Ala435Glu
|aa_change_short=A435E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs751557
|overall_frequency_n=2915
|overall_frequency_d=10758
|overall_frequency=0.270961
|n_genomes=22
|n_genomes_annotated=0
|n_haplomes=26
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.568
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=3
|n_web_uneval=1
}}

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