Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200

2017
dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. 19159394

2009
dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. 19012347

2008
dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973
dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR