Gene: FBN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566911724
rs1566911724
FBN1
TTTATT 0.700 CausalMutation CLINVAR

dbSNP: rs1555397733
rs1555397733
FBN1
TTGCCAGAGTTGTG 0.700 CausalMutation CLINVAR

dbSNP: rs1566911331
rs1566911331
FBN1
TT 0.700 GeneticVariation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843

2009
dbSNP: rs1566911331
rs1566911331
FBN1
TT 0.700 GeneticVariation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs1555393516
rs1555393516
FBN1
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555396760
rs1555396760
FBN1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1555397007
rs1555397007
FBN1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1555398137
rs1555398137
FBN1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1060501067
rs1060501067
FBN1
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1566908947
rs1566908947
FBN1
TATGCTGCATTCATC 0.700 CausalMutation CLINVAR

dbSNP: rs1566903283
rs1566903283
FBN1
TAGCACAAACTTCTTCTCATATCTAGAAGGG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555394407
rs1555394407
FBN1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1555397194
rs1555397194
FBN1
TA 0.700 GeneticVariation CLINVAR Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis. 11251996

2001
dbSNP: rs794728315
rs794728315
FBN1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. 24501682

2013
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009
dbSNP: rs1057518881
rs1057518881
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: rs1057521102
rs1057521102
FBN1
T 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs1057521102
rs1057521102
FBN1
T 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: rs1057521102
rs1057521102
FBN1
T 0.700 CausalMutation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843

2009
dbSNP: rs1057521102
rs1057521102
FBN1
T 0.700 CausalMutation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006