Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2014
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1973 2014
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		0.700 0
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.700 0
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.700 0
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.700 0
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.700 0
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.700 0