rs869312676, OPHN1

N. diseases: 3
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.
Laryngotracheomalacia
CUI: C0585984
Disease: Laryngotracheomalacia
6 0.882 0.240 X 68063977 missense variant C/T snv 0.700 0
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
CUI: C1845366
Disease: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
6 0.882 0.240 X 68063977 missense variant C/T snv 0.700 0
Tracheomalacia
CUI: C0948187
Disease: Tracheomalacia
5 0.882 0.240 X 68063977 missense variant C/T snv 0.700 0