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: 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: 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: 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; 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: 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