rs1057518812, FBN1

N. diseases: 6
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.
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0