rs1554122802, FBN2

N. diseases: 22
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 0.160 5 128335170 missense variant C/T snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Camptodactyly of toe
CUI: C4021774
Disease: Camptodactyly of toe
1 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Congenital contractural arachnodactyly
48 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Convex nasal ridge
CUI: C0240538
Disease: Convex nasal ridge
8 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Crumpled ear
CUI: C4024166
Disease: Crumpled ear
5 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Deep philtrum
CUI: C1839797
Disease: Deep philtrum
5 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Flexion contracture - wrist
CUI: C0409345
Disease: Flexion contracture - wrist
4 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Flexion contracture of finger
CUI: C1857304
Disease: Flexion contracture of finger
4 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Flexion contracture of hip
CUI: C0409354
Disease: Flexion contracture of hip
5 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Flexion contracture of proximal interphalangeal joint
7 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Long toe
CUI: C3150613
Disease: Long toe
8 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Microretrognathia
CUI: C1839546
Disease: Microretrognathia
6 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Prominent glabella
CUI: C1860247
Disease: Prominent glabella
3 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Scaphycephaly
CUI: C0265534
Disease: Scaphycephaly
8 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Sparse eyebrow
CUI: C1832446
Disease: Sparse eyebrow
6 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Sparse eyelashes
CUI: C1843300
Disease: Sparse eyelashes
4 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Thoracic scoliosis
CUI: C1857790
Disease: Thoracic scoliosis
5 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0