Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555398989
rs1555398989
T 0.700 CausalMutation CLINVAR Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 21542060

2011

dbSNP: rs1555398989
rs1555398989
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: rs1555398989
rs1555398989
T 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

dbSNP: rs1555398989
rs1555398989
T 0.700 CausalMutation CLINVAR Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome. 16476890

2006

dbSNP: rs1555398989
rs1555398989
T 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006

dbSNP: rs1555398989
rs1555398989
T 0.700 CausalMutation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999

dbSNP: rs1555398989
rs1555398989
T 0.700 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987

dbSNP: rs1555398989
rs1555398989
T 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973