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: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 3 2005 2016
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 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 3 2005 2016
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0