rs121913529, KRAS

N. diseases: 144
Disease: Congenital arteriovenous malformation ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital arteriovenous malformation
CUI: C0003857
Disease: Congenital arteriovenous malformation
0.020 GeneticVariation BEFREE We detected activating BRAF mutations and two novel mutations in KRAS (p.G12A and p.S65_A66insDS) in CNS arteriovenous malformations for the first time. 30544177 2019
Congenital arteriovenous malformation
CUI: C0003857
Disease: Congenital arteriovenous malformation
0.020 GeneticVariation BEFREE KRAS G12D or G12V Mutation in Human Brain Arteriovenous Malformations. 30902772 2019