Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854457
rs137854457
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs137854457
rs137854457
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 GeneticVariation CLINVAR