Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880099
rs730880099
FBN1
A 0.700 CausalMutation CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469

2010
dbSNP: rs730880099
rs730880099
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: rs730880099
rs730880099
FBN1
A 0.700 CausalMutation CLINVAR Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. 17679947

2007
dbSNP: rs730880099
rs730880099
FBN1
A 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs730880099
rs730880099
FBN1
A 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs730880099
rs730880099
FBN1
A 0.700 CausalMutation CLINVAR Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917

2004
dbSNP: rs730880099
rs730880099
FBN1
A 0.700 CausalMutation CLINVAR Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. 9338581

1997
dbSNP: rs730880099
rs730880099
FBN1
A 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973
dbSNP: rs730880099
rs730880099
FBN1
A 0.700 GeneticVariation CLINVAR