rs886039813, OFD1

N. diseases: 8
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.
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
Hallux Valgus
CUI: C0018536
Disease: Hallux Valgus
6 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
Tooth, Supernumerary
CUI: C0040457
Disease: Tooth, Supernumerary
2 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0