Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566944839
rs1566944839
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001