{{Rsnum
|rsid=1800215
|Gene=COL1A1
|Chromosome=17
|position=50188134
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.02388
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=COL1A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 6.2 | 93.8
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 10.9 | 89.1
| ASW | 0.0 | 12.5 | 87.5
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.9 | 99.1
| GIH | 0.0 | 1.0 | 99.0
| LWK | 0.0 | 10.9 | 89.1
| MEX | 0.0 | 0.0 | 0.0
| MKK | 1.3 | 9.0 | 89.7
| TSI | 0.0 | 3.9 | 96.1
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1800215
|allele=C
|frequency=0.982
|uid=1103645339244
|type=homozygous_SNP
|hugo=COL1A1
|ensembl gene=ENSG00000108821
|ensembl transcript=ENST00000225964
|sift=TOLERATED
|disease=A chromosomal aberration involving COL1A1 is a cause of dermatofibrosarcoma protuberans (DFSP) (MIM:607907). Translocation t(17;22)(q22;q13) with PDGF. DFSP is an uncommon, locally aggressive, but rarely metastasizing tumor of the deep dermis and subcutaneous tissue. It typically occurs during early or middle adult life and is most frequently located on the trunk and proximal extremities.
}}

{{PMID|15113403|OA=1
}} Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.

{{PMID|15157284|OA=1
}} Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

{{PMID|18996919|OA=1
}} Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

{{PMID|19152976|OA=1
}} Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.

{{GET Evidence
|gene=COL1A1
|aa_change=Thr1075Ala
|aa_change_short=T1075A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800215
|overall_frequency_n=10375
|overall_frequency_d=10690
|overall_frequency=0.970533
|n_genomes=46
|n_genomes_annotated=0
|n_haplomes=89
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=1
}}

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