COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Aortic Aneurysm, Abdominal ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518075
rs1057518075
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0162871
Disease:
Aortic Aneurysm, Abdominal 		0.010 GeneticVariation BEFREE In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS. 26017485 2015