rs1566911709, FBN1

N. diseases: 15
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.
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Limited elbow extension
CUI: C1867103
Disease: Limited elbow extension
2 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Mitral Valve Insufficiency
CUI: C0026266
Disease: Mitral Valve Insufficiency
11 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
31 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Retrognathia
CUI: C3494422
Disease: Retrognathia
11 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Tricuspid Valve Insufficiency
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
5 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
Tricuspid Valve Prolapse
CUI: C0040962
Disease: Tricuspid Valve Prolapse
4 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0