Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922243
rs193922243
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935

2017
dbSNP: rs193922243
rs193922243
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935

2017