COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Perforation of colon ×
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: rs1559056438
rs1559056438 		0.925 0.200 2 188994727 missense variant G/A snv
CUI: C0347646
Disease: Perforation of colon
Perforation of colon 		Digestive System Diseases 0.700 0