Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566893738
rs1566893738
GTGTA 0.700 CausalMutation CLINVAR A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. 28941062

2017

dbSNP: rs1566922396
rs1566922396
T 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017

dbSNP: rs193922243
rs193922243
T 0.700 CausalMutation CLINVAR Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935

2017

dbSNP: rs397515819
rs397515819
T 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017

dbSNP: rs730880097
rs730880097
A 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017

dbSNP: rs794728195
rs794728195
A 0.700 CausalMutation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017

dbSNP: rs863223852
rs863223852
T 0.700 CausalMutation CLINVAR Extreme phenotypes of Loeys Dietz syndrome. 28225382

2017

dbSNP: rs886038786
rs886038786
T 0.700 CausalMutation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ. 27508510

2016

dbSNP: rs1057518881
rs1057518881
T 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016

dbSNP: rs1057524458
rs1057524458
G 0.700 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016

dbSNP: rs1060501029
rs1060501029
C 0.700 GeneticVariation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs1060501055
rs1060501055
C 0.700 GeneticVariation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016

dbSNP: rs111426349
rs111426349
T 0.700 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016

dbSNP: rs111687884
rs111687884
A 0.700 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016

dbSNP: rs112550005
rs112550005
A 0.700 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580

2016

dbSNP: rs113001196
rs113001196
A 0.700 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580

2016

dbSNP: rs113080385
rs113080385
C 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016

dbSNP: rs113249837
rs113249837
A 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs113812345
rs113812345
A 0.700 CausalMutation CLINVAR Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome. 27234404

2016

dbSNP: rs1206813753
rs1206813753
G 0.700 GeneticVariation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016

dbSNP: rs1346043320
rs1346043320
C 0.700 GeneticVariation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580

2016

dbSNP: rs137854464
rs137854464
T 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs137854476
rs137854476
A 0.700 CausalMutation CLINVAR Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. 27175573

2016