Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728165
rs794728165
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. 25652356

2015
dbSNP: rs794728165
rs794728165
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs794728165
rs794728165
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 17663468

2007
dbSNP: rs794728165
rs794728165
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003