rs121912923, COL3A1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ehlers-Danlos Syndrome, Type IV
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
391 0.882 0.160 2 188996479 missense variant G/A;C;T snv 0.800 1.000 26 1989 2017
Aneurysm
CUI: C0002940
Disease: Aneurysm
36 0.882 0.160 2 188996479 missense variant G/A;C;T snv 0.700 0
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.160 2 188996479 missense variant G/A;C;T snv 0.700 0