{{Rsnum
|rsid=42524
|Gene=COL1A2
|Chromosome=7
|position=94413927
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.1474
|Gene_s=COL1A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 8.8 | 24.6 | 66.7
| HCB | 0.0 | 11.1 | 88.9
| JPT | 0.0 | 4.9 | 95.1
| YRI | 0.0 | 15.3 | 84.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 11.1 | 88.9
| 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
}}[[rs42524]] is a SNP in the [[COL1A2]] gene.

This SNP has been associated with familial intracranial [[aneurysms]] (IA) in both Japanese and Chinese populations; in Chinese patients, the odds ratio is 2.579 (CI: 1.48-4.47).{{PMID|19035720}}

{{Venter SNP
|rsid=42524
|allele=G
|frequency=0.758
|uid=1103652647056
|type=homozygous_SNP
|hugo=COL1A2
|ensembl gene=ENSG00000164692
|ensembl transcript=ENST00000297268
|sift=TOLERATED
|disease=Defects in COL1A2 are a cause of osteogenesis imperfecta type IV (OI-IV) (MIM:166220); also known as osteogenesis imperfecta with normal sclerae. OI-IV presents with moderate to mild deformity and variable short stature. Dentinogenesis imperfecta is common and hearing loss occurs in some.
}}

{{PMID Auto
|PMID=19426706
|Title=Heterozygosity (but not homozygosity) for a Coding SNP in COL1A2 Confers a Lower BMD and an Increased Stroke Risk
}}

{{PMID Auto
|PMID=19559927
|Title=The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans
}}

{{PMID Auto
|PMID=21602843
|Title=No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women
}}

{{PMID Auto
|PMID=16361613
|Title=The collagen 1A2 polymorphism rs42524, which is associated with intracranial aneurysms, shows no association with spontaneous cervical artery dissection (sCAD).
|OA=1
}}

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

{{PMID Auto
|PMID=20140262
|Title=Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.
|OA=1
}}

{{PMID Auto
|PMID=23036172
|Title=The rs42524 COL1A2 polymorphism is associated with primary intracerebral hemorrhage in a Chinese population
}}

{{GET Evidence
|gene=COL1A2
|aa_change=Pro549Ala
|aa_change_short=P549A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs42524
|overall_frequency_n=8582
|overall_frequency_d=10758
|overall_frequency=0.797732
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=93
|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=2
|autoscore=3
|n_web_uneval=1
}}

{{PMID Auto
|PMID=23800505
|Title=Associations of Collagen Type I α2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany
}}

{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}