Gene: FBN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555404803
rs1555404803
FBN1
A 0.700 GeneticVariation CLINVAR Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience. 31730815

2020
dbSNP: rs1566896114
rs1566896114
FBN1
C 0.700 GeneticVariation CLINVAR Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience. 31730815

2020
dbSNP: rs1566913670
rs1566913670
FBN1
G 0.700 CausalMutation CLINVAR Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience. 31730815

2020
dbSNP: rs137854480
rs137854480
FBN1
A 0.800 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: rs794728334
rs794728334
FBN1
0.710 GeneticVariation BEFREE In this study, we generated human induced pluripotent stem cells (iPSCs) from dermal fibroblasts of an MFS patient with the p. E2130K (c. 6388G > A) mutation. 30870686

2019
dbSNP: rs794728334
rs794728334
FBN1
T 0.710 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: rs1555399165
rs1555399165
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: rs1555400274
rs1555400274
FBN1
GT 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: rs1566891645
rs1566891645
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: rs1566895225
rs1566895225
FBN1
TC 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: rs1566896114
rs1566896114
FBN1
C 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: rs1566898399
rs1566898399
FBN1
C 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: rs1566904011
rs1566904011
FBN1
A 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: rs1566906537
rs1566906537
FBN1
C 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: rs1566908956
rs1566908956
FBN1
A 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: rs1566909766
rs1566909766
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: rs1566915335
rs1566915335
FBN1
C 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: rs1566919599
rs1566919599
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: rs1566937712
rs1566937712
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: rs397515765
rs397515765
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: rs397515784
rs397515784
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: rs397515819
rs397515819
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: rs794728208
rs794728208
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: rs137854485
rs137854485
FBN1
0.020 GeneticVariation BEFREE In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms. 30485715

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