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: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 2 2002 2016
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2002 2016
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.700 0