SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Disease: Anophthalmos ×
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: rs1560264452
rs1560264452 		0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104893802
rs104893802 		0.882 0.160 3 181712650 missense variant T/C snv
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016