{{Rsnum
|rsid=2075555
|Gene=COL1A1
|Chromosome=17
|position=50196930
|Orientation=minus
|GMAF=0.2452
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=COL1A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.9 | 31.0 | 68.1
| HCB | 26.7 | 28.9 | 44.4
| JPT | 16.4 | 48.2 | 35.5
| YRI | 4.9 | 38.7 | 56.3
| ASW | 13.0 | 35.2 | 51.9
| CHB | 26.7 | 28.9 | 44.4
| CHD | 11.4 | 50.5 | 38.1
| GIH | 7.1 | 48.5 | 44.4
| LWK | 8.5 | 48.1 | 43.4
| MEX | 0.0 | 0.0 | 0.0
| MKK | 4.1 | 41.5 | 54.4
| TSI | 1.0 | 23.0 | 76.0
| HapMapRevision=28
}}{{GWAS Summary
|SNP=rs2075555
|PubMedID=17903305
|Condition=Breast cancer
|Gene=COL1A1
|Risk Allele=
|pValue=8.00E-008
|OR=NA
|95CI=
|OA=1
}}

{{PharmGKB
|RSID=rs2075555
|Name_s=
|Gene_s=COL1A1
|Feature=
|Evidence=PubMed ID:17903305; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study (Initial Sample Size: 1,345 individuals (Framingham); Replication Sample Size: NR). This variant is associated with Breast cancer.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356379
}}

{{PMID Auto
|PMID=21791674
|Title=Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
|OA=1
}}

{{PMID Auto
|PMID=22022476
|Title=Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation
|OA=1
}}

{{doi|10.1371/journal.pone.0025940}} Associated with Accelerated Bone Mineral Density Loss after Hematopoietic Cell Transplantation

{{PMID Auto
|PMID=22219633
|Title=An association study of the COL1A1 gene and high myopia in a Han Chinese population
|OA=1
}}

{{PMID Auto
|PMID=17557158
|Title=The COL1A1 gene and high myopia susceptibility in Japanese.
}}

{{PMID Auto
|PMID=17903296
|Title=Genome-wide association with bone mass and geometry in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=18836165
|Title=Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population.
}}

{{PMID Auto
|PMID=19180518
|Title=Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
}}

{{PMID Auto
|PMID=19260140
|Title=Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2075555
|overall_frequency_n=91
|overall_frequency_d=126
|overall_frequency=0.722222
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=80
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=24528085
|Title=Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}