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 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 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642

2013
dbSNP: rs113001196
rs113001196
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
dbSNP: rs113001196
rs113001196
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 20979188

2010