{{Rsnum
|rsid=1676486
|Gene=COL11A1
|Chromosome=1
|position=102888582
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.1846
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=COL11A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 1.8 | 37.3 | 60.9
| HCB | 8.9 | 33.3 | 57.8
| JPT | 5.6 | 38.0 | 56.5
| YRI | 2.1 | 26.6 | 71.3
| ASW | 9.3 | 31.5 | 59.3
| CHB | 8.9 | 33.3 | 57.8
| CHD | 9.3 | 38.3 | 52.3
| GIH | 7.0 | 50.0 | 43.0
| LWK | 11.2 | 26.2 | 62.6
| MEX | 1.8 | 29.8 | 68.4
| MKK | 9.6 | 39.7 | 50.6
| TSI | 1.0 | 28.0 | 71.0
| HapMapRevision=28
}}[[Lumbar disc herniation]] (LDH), a form of [[lumbar disc disease]], is one of the most common musculoskeletal diseases. [[rs1676486]], a SNP also known as c.4603C-->T in the [[COLL11A1]] gene (one of 3 Type XI collagen genes), has been implicated in a study of ~800 Japanese patients as being associated with LDH. The risk allele in dbSNP orientation is (A), and the odds ratio associated with the allele is 1.42 (CI: 1.23 - 1.65). {{PMID|17999364|OA=1
}}

{{Venter SNP
|rsid=1676486
|allele=G
|frequency=0.833
|uid=1103675180140
|type=homozygous_SNP
|hugo=COL11A1
|ensembl gene=ENSG00000060718
|ensembl transcript=ENST00000193186
|sift=TOLERATED
|disease=Defects in COL11A1 are the cause of Marshall syndrome (MIM:154780). It is an autosomal dominant disorder with ocular, oro-facial, auditory and skeletal manifestations. It shares several features with Stickler syndrome, such as midfacial hypoplasia, high myopia, and sensorineural-hearing deficit.
}}

{{omim
|id=120280
|desc=COLLAGEN, TYPE XI, ALPHA-1; COL11A1
|rsnum=1676486
}}

{{PharmGKB
|RSID=rs1676486
|Name_s=COL11A1:c.4603C>T
|Gene_s=COL11A1
|Feature=
|Evidence=PubMed ID:17999364
|Annotation=In independent Japanese populations, the T allele was shown to be associated with Lumbar Disc Herniation.
|Drugs=
|Drug Classes=
|Diseases=Lumbar Disc Herniation
|Curation Level=Curated
|PharmGKB Accession ID=PA161614137
}}

{{GET Evidence
|gene=COL11A1
|aa_change=Ser1419Pro
|aa_change_short=S1419P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1676486
|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=3
|autoscore=3
|webscore=N
}}

{{PMID Auto
|PMID=23497244
|Title=Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues
|OA=1
}}

{{PMID Auto
|PMID=23624467
|Title=Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.
}}

{{PMID Auto
|PMID=24854855
|Title=Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}