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: rs1553862987
rs1553862987 		3 181712694 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 8 2005 2016
dbSNP: rs1560264973
rs1560264973 		1.000 0.160 3 181713201 frameshift variant GCCGAGGTGCCGGAACCCGC/ACCTCGG 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 1.000 3 2009 2014
dbSNP: rs104893805
rs104893805 		0.925 0.160 3 181712581 missense variant G/C;T 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 0.800 1.000 2 2003 2014
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
dbSNP: rs104893802
rs104893802 		0.882 0.160 3 181712650 missense variant T/C snv
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs104893805
rs104893805 		0.925 0.160 3 181712581 missense variant G/C;T snv
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs11915160
rs11915160 		0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11915160
rs11915160 		0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs11915160
rs11915160 		0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11915160
rs11915160 		0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11915160
rs11915160 		0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs104893799
rs104893799 		1.000 0.160 3 181712889 stop gained C/T 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: rs104893800
rs104893800 		1.000 0.160 3 181712637 stop gained G/T 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: rs104893801
rs104893801 		1.000 0.160 3 181712608 stop gained C/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: rs104893802
rs104893802 		0.882 0.160 3 181712650 missense variant T/C 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: rs104893804
rs104893804 		1.000 0.160 3 181712523 stop gained C/T 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: rs104893806
rs104893806 		1.000 0.160 3 181712498 missense variant T/G 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: rs1553862958
rs1553862958 		1.000 0.160 3 181712514 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: rs1553862971
rs1553862971 		1.000 0.160 3 181712602 frameshift variant TT/- 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: rs1560264167
rs1560264167 		1.000 0.160 3 181712417 frameshift variant -/GGCAACTCCACCGCGGCGGCGGC 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: rs1560264452
rs1560264452 		0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		Endocrine System Diseases 0.700 0
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: rs1560264452
rs1560264452 		0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 0
dbSNP: rs1560264452
rs1560264452 		0.851 0.200 3 181712745 frameshift variant GG/- del
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: rs1560264452
rs1560264452 		0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0