Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566901570
rs1566901570
FBN1
AA 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: rs1566901570
rs1566901570
FBN1
AA 0.700 GeneticVariation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007