rs1566902569, FBN1

N. diseases: 9
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.
Abnormality of the thyroid gland
CUI: C4317107
Disease: Abnormality of the thyroid gland
2 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
27 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
Hypoplastic finger
CUI: C1844548
Disease: Hypoplastic finger
3 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
Joint stiffness
CUI: C0162298
Disease: Joint stiffness
14 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
Mitral Valve Insufficiency
CUI: C0026266
Disease: Mitral Valve Insufficiency
11 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
Short toe
CUI: C1836195
Disease: Short toe
3 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
Thick skin
CUI: C0241165
Disease: Thick skin
1 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
Tracheal Stenosis
CUI: C0040583
Disease: Tracheal Stenosis
2 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0