RS139955975 COL1A1

Health Risk Chr 17:50195937
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What This Variant Does
"CLNSIG=4
Associated Conditions
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Familial thoracic aortic aneurysm and aortic dissection
Cardiovascular phenotype
COL1A1-related disorder
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Familial thoracic aortic aneurysm and aortic dissection
Cardiovascular phenotype
Other Variants in COL1A1
rs72645333 rs72645331 rs66721653 rs72648363 rs67368147 rs72651651 rs72653137 rs72653136 rs72653143 rs72653152
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