SOX5, SRY-box transcription factor 5, 6660

N. diseases: 150; N. variants: 37
Disease: Strabismus ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518845
rs1057518845 		0.925 0.120 12 23755726 splice acceptor variant T/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0