COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
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: rs1553507345
rs1553507345
1.000 0.040 2 188989397 missense variant GC/AA mnv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
Cardiovascular Diseases 0.700 0