rs397514558, FBN1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
0.700 CausalMutation CLINVAR
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 GeneticVariation CLINVAR
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR
Ectopia lentis isolated
CUI: C1851286
Disease: Ectopia lentis isolated
0.010 GeneticVariation BEFREE A novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which is responsible for the patients with isolated EL in this Chinese family. 22539873 2012