Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113001196
rs113001196
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001
dbSNP: rs113001196
rs113001196
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093

1996
dbSNP: rs113001196
rs113001196
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763

1996
dbSNP: rs113001196
rs113001196
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986