Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854478
rs137854478
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.810 CausalMutation CLINVAR Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. 21784848

2011
dbSNP: rs137854478
rs137854478
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.810 CausalMutation CLINVAR Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1. 17324963

2007
dbSNP: rs137854478
rs137854478
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.810 CausalMutation CLINVAR Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome. 10766875

2000
dbSNP: rs137854478
rs137854478
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.810 GeneticVariation CLINVAR