rs113422242, FBN1

N. diseases: 14
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.710 1.000 1 2000 2000
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Joint stiffness
CUI: C0162298
Disease: Joint stiffness
14 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Linear atrophy
CUI: C0152459
Disease: Linear atrophy
6 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Mitral Valve Insufficiency
CUI: C0026266
Disease: Mitral Valve Insufficiency
11 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Tricuspid Valve Insufficiency
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
5 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Tricuspid Valve Prolapse
CUI: C0040962
Disease: Tricuspid Valve Prolapse
4 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
Weight decreased
CUI: C1262477
Disease: Weight decreased
3 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0