RS193922153 COL1A1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Osteogenesis imperfecta type I
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome
arthrochalasia type
Cardiovascular phenotype
Osteogenesis imperfecta type I
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome
arthrochalasia type
Other Variants in COL1A1