COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912923
rs121912923 		0.882 0.160 2 188996479 missense variant G/A;C;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553507180
rs1553507180 		0.925 0.040 2 188988083 frameshift variant C/- delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553507867
rs1553507867 		0.925 0.040 2 188994066 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs869312034
rs869312034 		0.925 0.160 2 189006260 splice donor variant G/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0