SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
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: rs387906688
rs387906688 		1.000 0.160 3 181712605 stop gained T/A snv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122803
rs398122803 		1.000 0.160 3 181712413 frameshift variant -/G;GG delins
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122915
rs398122915 		1.000 0.160 3 181712503 stop gained TC/AA mnv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122916
rs398122916 		1.000 0.160 3 181713194 frameshift variant C/- delins
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587776776
rs587776776 		1.000 0.160 3 181712909 frameshift variant C/- delins
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893803
rs104893803 		1.000 0.160 3 181712823 stop gained C/G;T snv 4.4E-06
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
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
dbSNP: rs771521201
rs771521201 		1.000 0.160 3 181712900 stop gained C/G;T snv 4.9E-05 3.5E-05
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2009 2011
dbSNP: rs121918652
rs121918652 		1.000 0.080 3 181712749 missense variant G/C snv 7.2E-05 1.4E-05
CUI: C1859774
Disease: Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 		Eye Diseases; Nervous System Diseases 0.700 0