Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 21907952

2011
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. 17718856

2007
dbSNP: rs113871094
rs113871094
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
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		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