{{Rsnum
|rsid=1053312
|Gene=COL6A1
|Chromosome=21
|position=46003475
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2773
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=COL6A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 4.5 | 41.1 | 54.5
| HCB | 2.9 | 21.9 | 75.2
| JPT | 9.7 | 28.3 | 61.9
| YRI | 21.1 | 43.5 | 35.4
| ASW | 21.1 | 45.6 | 33.3
| CHB | 2.9 | 21.9 | 75.2
| CHD | 1.8 | 22.9 | 75.2
| GIH | 2.0 | 36.6 | 61.4
| LWK | 14.5 | 52.7 | 32.7
| MEX | 13.8 | 39.7 | 46.6
| MKK | 3.8 | 37.8 | 58.3
| TSI | 7.8 | 32.4 | 59.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=1053312
|allele=A
|frequency=0.283
|uid=1103643135205
|type=heterozygous_SNP
|hugo=COL6A1
|ensembl gene=ENSG00000142156
|ensembl transcript=ENST00000361866
|sift=TOLERATED
|disease=Defects in COL6A1 are a cause of Bethlem myopathy (BM) (MIM:158810). BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.
}}

{{PMID Auto
|PMID=12958705
|Title=Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
|OA=1
}}

{{GET Evidence
|gene=COL6A1
|aa_change=Arg850His
|aa_change_short=R850H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1053312
|overall_frequency_n=3615
|overall_frequency_d=10596
|overall_frequency=0.341166
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=32
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=2
}}

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