SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Disease: Congenital ocular coloboma (disorder) ×
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: rs766630697
rs766630697 		1.000 0.080 3 181713055 missense variant C/A snv 1.6E-05
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2008 2008