{{Rsnum
|rsid=3803183
|Gene=COL2A1
|Chromosome=12
|position=48004297
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.3049
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=COL2A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 21.2 | 39.4 | 39.4
| JPT | 15.9 | 59.1 | 25.0
| YRI | 9.3 | 50.0 | 40.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 21.2 | 39.4 | 39.4
| 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=3803183
|allele=A
|frequency=
|uid=1103649434946
|type=homozygous_SNP
|hugo=COL2A1
|ensembl gene=ENSG00000139219
|ensembl transcript=ENST00000337299
|sift=
|disease=Of special interest are three different variants that replace arginine codons at positions 206, 650 and 920 in the triple-helical domain with codons for cysteine, an amino acid not normally found in the triple-helical domain of type II collagen from any species. They are of special interest, because they are the only amino acid substitutions in the triple-helical domain that replaces a Y-position amino acid and cause a disease phenotype. Also, they are recurrent in that they have been found in more than one unrelated individual.
}}

{{PMID Auto
|PMID=19387081
|Title=COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus
|OA=1
}}

{{PMID|18523590|OA=1
}} Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

{{PMID|19430638|OA=1
}} Host genetic and epigenetic factors in toxoplasmosis.

{{GET Evidence
|gene=COL2A1
|aa_change=Thr9Ser
|aa_change_short=T9S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3803183
|overall_frequency_n=7201
|overall_frequency_d=9106
|overall_frequency=0.790797
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=3
|n_web_uneval=1
}}

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