Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113812345
rs113812345
A 0.700 CausalMutation CLINVAR Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome. 27234404

2016

dbSNP: rs113812345
rs113812345
A 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009

dbSNP: rs113812345
rs113812345
A 0.700 CausalMutation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005