{{Rsnum
|rsid=1516446
|Gene=COL3A1
|Chromosome=2
|position=189010695
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.003214
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 98.5 | 1.5 | 0.0
| JPT | 99.1 | 0.9 | 0.0
| YRI | 97.3 | 2.0 | 0.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 98.5 | 1.5 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 95.4 | 4.6 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 98.1 | 1.9 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1516446
|allele=G
|frequency=1
|uid=1103658318908
|type=homozygous_SNP
|hugo=COL3A1
|ensembl gene=ENSG00000168542
|ensembl transcript=ENST00000304636
|sift=
|disease=Defects in COL3A1 are the cause of type IV Ehlers-Danlos syndrome (EDS-IV) (MIM:130050). EDS-IV is the most severe form of the disease, in that it often produces life-threatening consequences, such as rupture of the arteries, bowel, or uterus. A variant form of EDS-IV is Gottron type acrogeria (MIM:201200). The main characteristics are atrophy and mottled-type hyperpigmentation of the acral skin, resulting in an aged appearance.
}}

{{GET Evidence
|gene=COL3A1
|aa_change=His1353Gln
|aa_change_short=H1353Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1516446
|overall_frequency_n=10698
|overall_frequency_d=10758
|overall_frequency=0.994423
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=2
|webscore=N
}}

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