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: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 1 2000 2000
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		0.700 0