Source: CLINVAR

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: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C4024166
Disease: Crumpled ear
Crumpled ear 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C3150613
Disease: Long toe
Long toe 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		0.700 0