|?|| (A;A) (A;G) (G;G) ||28|
| Disease Association
|| 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] 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] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
[PMID 18996919] Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
[PMID 19152976] Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.
|| not reviewed
|| Insufficiently evaluated not reviewed