Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854464
rs137854464
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
dbSNP: rs137854464
rs137854464
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469

2010
dbSNP: rs137854464
rs137854464
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs137854464
rs137854464
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs137854464
rs137854464
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling. 10229672

1999