Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854480
rs137854480
FBN1
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs137854464
rs137854464
FBN1
0.800 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs137854480
rs137854480
FBN1
0.800 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs137854464
rs137854464
FBN1
0.800 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002
dbSNP: rs137854464
rs137854464
FBN1
0.800 GeneticVariation UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs137854480
rs137854480
FBN1
0.800 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002
dbSNP: rs137854480
rs137854480
FBN1
0.800 GeneticVariation UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs137854464
rs137854464
FBN1
0.800 GeneticVariation UNIPROT Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001
dbSNP: rs137854480
rs137854480
FBN1
0.800 GeneticVariation UNIPROT Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001
dbSNP: rs137854464
rs137854464
FBN1
0.800 GeneticVariation UNIPROT A novel mutation of the fibrillin gene causing ectopia lentis. 8188302

1994
dbSNP: rs137854480
rs137854480
FBN1
0.800 GeneticVariation UNIPROT A novel mutation of the fibrillin gene causing ectopia lentis. 8188302

1994
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation CLINVAR

dbSNP: rs111401431
rs111401431
FBN1
0.800 GeneticVariation UNIPROT

dbSNP: rs137854464
rs137854464
FBN1
T 0.800 CausalMutation CLINVAR

dbSNP: rs137854480
rs137854480
FBN1
A 0.800 CausalMutation CLINVAR

dbSNP: rs111984349
rs111984349
FBN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs113543334
rs113543334
FBN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs140583
rs140583
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555397413
rs1555397413
FBN1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555397718
rs1555397718
FBN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555400373
rs1555400373
FBN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566899590
rs1566899590
FBN1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566911957
rs1566911957
FBN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs193922185
rs193922185
FBN1
A 0.700 CausalMutation CLINVAR