Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854471
rs137854471
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. 27893734

2017
dbSNP: rs137854471
rs137854471
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999
dbSNP: rs137854471
rs137854471
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. 8136837

1994
dbSNP: rs137854471
rs137854471
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 GeneticVariation CLINVAR