Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147195031
rs147195031
A 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs147195031
rs147195031
A 0.700 CausalMutation CLINVAR Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD. 26272055

2015

dbSNP: rs147195031
rs147195031
A 0.700 CausalMutation CLINVAR Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. 23278365

2013

dbSNP: rs147195031
rs147195031
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: rs147195031
rs147195031
A 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006

dbSNP: rs147195031
rs147195031
A 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

dbSNP: rs147195031
rs147195031
A 0.700 CausalMutation CLINVAR Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917

2004

dbSNP: rs147195031
rs147195031
A 0.700 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003

dbSNP: rs147195031
rs147195031
A 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973