Gene: FBN1 ×
Source: CLINVAR ×
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 Genotype impacts survival in Marfan syndrome. 26787436

2016
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
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: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269

2015
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535

2015
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792

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: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535

2015
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269

2015
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792

2015
dbSNP: rs1555393647
rs1555393647
FBN1
GT 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792

2015
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269

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: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535

2015
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792

2015
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535

2015
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269

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 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014