Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913529
rs121913529
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

dbSNP: rs121913529
rs121913529
0.020 GeneticVariation BEFREE KRAS G12D or G12V Mutation in Human Brain Arteriovenous Malformations. 30902772

2019

dbSNP: rs11545664
rs11545664
ENG
0.020 GeneticVariation BEFREE We hypothesized that the ACVRL1 c.314-35A>G and ENG c.207G>A polymorphisms, previously associated with sporadic brain AVM, are associated with organ VM in HHT. 25847705

2015

dbSNP: rs201393380
rs201393380
0.020 GeneticVariation BEFREE We hypothesized that the ACVRL1 c.314-35A>G and ENG c.207G>A polymorphisms, previously associated with sporadic brain AVM, are associated with organ VM in HHT. 25847705

2015

dbSNP: rs11545664
rs11545664
ENG
0.020 GeneticVariation BEFREE The association between ENG 207G>A polymorphism and brain arteriovenous malformation rupture and surgery outcome was analyzed using logistic regression analysis in 256 ruptured and 157 unruptured patients. 24876084

2014

dbSNP: rs201393380
rs201393380
0.020 GeneticVariation BEFREE The association between ENG 207G>A polymorphism and brain arteriovenous malformation rupture and surgery outcome was analyzed using logistic regression analysis in 256 ruptured and 157 unruptured patients. 24876084

2014

dbSNP: rs113488022
rs113488022
0.010 GeneticVariation BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151

2020

dbSNP: rs121913377
rs121913377
0.010 GeneticVariation BEFREE The coexistence of gliosarcoma and arteriovenous malformation with the BRAF V600E mutation: case report. 31759151

2020

dbSNP: rs121913530
rs121913530
0.010 GeneticVariation BEFREE We also demonstrate the first reported instance of a KRAS p.G12C mutation in a brain AVM. 31026472

2019

dbSNP: rs897009059
rs897009059
0.010 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

dbSNP: rs10486391
rs10486391
0.010 GeneticVariation BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521

2018

dbSNP: rs1143627
rs1143627
0.010 GeneticVariation BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521

2018

dbSNP: rs11672433
rs11672433
0.010 GeneticVariation BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521

2018

dbSNP: rs1800795
rs1800795
0.010 GeneticVariation BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521

2018

dbSNP: rs2936018
rs2936018
0.010 GeneticVariation BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521

2018

dbSNP: rs314308
rs314308
0.010 GeneticVariation BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521

2018

dbSNP: rs361525
rs361525
TNF
0.010 GeneticVariation BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521

2018

dbSNP: rs443198
rs443198
0.010 GeneticVariation BEFREE The association between rs443198_TT and AVM bleeding remained significant in the multivariate regression analysis. 27231971

2017

dbSNP: rs7865618
rs7865618
0.010 GeneticVariation BEFREE Association between polymorphisms rs1333040 and rs7865618 of chromosome 9p21 and sporadic brain arteriovenous malformations. 24820060

2014

dbSNP: rs1333040
rs1333040
0.010 GeneticVariation BEFREE Association between the rs1333040 polymorphism on the chromosomal 9p21 locus and sporadic brain arteriovenous malformations. 23606732

2013

dbSNP: rs6265
rs6265
0.010 GeneticVariation BEFREE The Val66Met polymorphism is associated with worsened surgical outcome in patients with unruptured brain arteriovenous malformation, a group that currently has no good risk predictors. 22773554

2012

dbSNP: rs759834365
rs759834365
0.010 GeneticVariation BEFREE The Val66Met polymorphism is associated with worsened surgical outcome in patients with unruptured brain arteriovenous malformation, a group that currently has no good risk predictors. 22773554

2012

dbSNP: rs9509
rs9509
0.010 GeneticVariation BEFREE The rs9509 polymorphism of MMP-9 is associated with risk of hemorrhage in brain arteriovenous malformations. 22796276

2012

dbSNP: rs522616
rs522616
0.010 GeneticVariation BEFREE The rs522616 polymorphism in the matrix metalloproteinase-3 (MMP-3) gene is associated with sporadic brain arteriovenous malformation in a Chinese population. 20822909

2010

dbSNP: rs121909224
rs121909224
0.010 GeneticVariation BEFREE Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X. 10749983

2000