Gene: FBN1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247

2015
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247

2015
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247

2015
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247

2015
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269

2015