{{Rsnum
|rsid=2270669
|Gene=COL6A3
|Chromosome=2
|position=237334821
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.1965
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=COL6A3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 60.3 | 38.1 | 1.6
| HCB | 60.0 | 31.1 | 8.9
| JPT | 59.1 | 38.6 | 2.3
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 60.0 | 31.1 | 8.9
| 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=2270669
|allele=G
|frequency=0.793
|uid=1103658403528
|type=homozygous_SNP
|hugo=COL6A3
|ensembl gene=ENSG00000163359
|ensembl transcript=ENST00000295550
|sift=TOLERATED
|disease=Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) (MIM:254090); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
}}

{{ neighbor
| rsid = 1131296
| distance = 172
}}

{{GET Evidence
|gene=COL6A3
|aa_change=Ala2405Pro
|aa_change_short=A2405P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2270669
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|webscore=N
}}

{{PMID Auto
|PMID=23626599
|Title=Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669
|OA=1
}}

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