Gene: FBN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1156984408
rs1156984408
FBN1
T 0.700 GeneticVariation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029

2019
dbSNP: rs1566891701
rs1566891701
FBN1
G 0.700 CausalMutation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029

2019
dbSNP: rs727503054
rs727503054
FBN1
G 0.700 GeneticVariation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029

2019
dbSNP: rs764203302
rs764203302
FBN1
T 0.700 GeneticVariation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029

2019
dbSNP: rs794728162
rs794728162
FBN1
T 0.700 CausalMutation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029

2019
dbSNP: rs794728334
rs794728334
FBN1
T 0.700 CausalMutation CLINVAR A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis. 28098115

2019
dbSNP: rs1064794282
rs1064794282
FBN1
T 0.700 CausalMutation CLINVAR The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 29357934

2018
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 29357934

2018
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017
dbSNP: rs1060501017
rs1060501017
FBN1
G 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017
dbSNP: rs137854471
rs137854471
FBN1
T 0.700 CausalMutation CLINVAR An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. 27893734

2017
dbSNP: rs140597
rs140597
FBN1
C 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: rs1555396198
rs1555396198
FBN1
T 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017
dbSNP: rs1555397646
rs1555397646
FBN1
T 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017
dbSNP: rs1555399158
rs1555399158
FBN1
G 0.700 CausalMutation CLINVAR Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing. 28855619

2017
dbSNP: rs1566891654
rs1566891654
FBN1
A 0.700 CausalMutation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017
dbSNP: rs1566893738
rs1566893738
FBN1
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
FBN1
T 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017
dbSNP: rs193922243
rs193922243
FBN1
T 0.700 CausalMutation CLINVAR Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935

2017
dbSNP: rs397515819
rs397515819
FBN1
T 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017
dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
A 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017
dbSNP: rs794728195
rs794728195
FBN1
A 0.700 CausalMutation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017
dbSNP: rs886038786
rs886038786
FBN1
T 0.700 CausalMutation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs1057524458
rs1057524458
FBN1
G 0.700 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016