RS111840783 COL3A1

Health Risk Chr 2:189010291 snv missense variant
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Associated Conditions
Ehlers-Danlos syndrome
type 4
Loeys-Dietz syndrome
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Ehlers-Danlos syndrome
type 4
Loeys-Dietz syndrome
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Population Frequencies
gnomAD ALL
0.2%
Other Variants in COL3A1
rs397509369 rs113485686 rs121912914 rs397509370 rs587779443 rs869312034 rs397509371 rs121912927 rs121912915 rs121912928
Ask Dr. Hemsworth about this variant