Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553862987
rs1553862987
SOX2 ; SOX2-OT
3 181712694 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2005 2016
dbSNP: rs11915160
rs11915160
SOX2 ; SOX2-OT
0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 1.000 1 2010 2010
dbSNP: rs11915160
rs11915160
SOX2 ; SOX2-OT
0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2011 2011
dbSNP: rs11915160
rs11915160
SOX2 ; SOX2-OT
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 		0.010 1.000 1 2014 2014
dbSNP: rs11915160
rs11915160
SOX2 ; SOX2-OT
0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs11915160
rs11915160
SOX2 ; SOX2-OT
0.851 0.200 3 181713783 3 prime UTR variant C/A snv 0.11
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2011 2011
dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.700 0
dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.700 0
dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
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
SOX2 ; SOX2-OT
0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 0
dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs104893802
rs104893802
SOX2 ; SOX2-OT
0.882 0.160 3 181712650 missense variant T/C snv
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.010 1.000 1 2016 2016
dbSNP: rs104893802
rs104893802
SOX2 ; SOX2-OT
0.882 0.160 3 181712650 missense variant T/C snv
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		0.010 1.000 1 2016 2016
dbSNP: rs104893802
rs104893802
SOX2 ; SOX2-OT
0.882 0.160 3 181712650 missense variant T/C snv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 0
dbSNP: rs104893805
rs104893805
SOX2 ; SOX2-OT
0.925 0.160 3 181712581 missense variant G/C;T snv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.800 1.000 2 2003 2014
dbSNP: rs104893805
rs104893805
SOX2 ; SOX2-OT
0.925 0.160 3 181712581 missense variant G/C;T snv
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.010 1.000 1 2006 2006
dbSNP: rs1560264973
rs1560264973
SOX2 ; SOX2-OT
1.000 0.160 3 181713201 frameshift variant GCCGAGGTGCCGGAACCCGC/ACCTCGG delins
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 1.000 3 2009 2014
dbSNP: rs771521201
rs771521201
SOX2 ; SOX2-OT
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 		0.700 1.000 2 2009 2011
dbSNP: rs766630697
rs766630697
SOX2 ; SOX2-OT
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) 		0.010 1.000 1 2008 2008
dbSNP: rs104893799
rs104893799
SOX2 ; SOX2-OT
1.000 0.160 3 181712889 stop gained C/T snv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 0
dbSNP: rs104893800
rs104893800
SOX2 ; SOX2-OT
1.000 0.160 3 181712637 stop gained G/T snv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 0
dbSNP: rs104893801
rs104893801
SOX2 ; SOX2-OT
1.000 0.160 3 181712608 stop gained C/A snv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 0
dbSNP: rs104893803
rs104893803
SOX2 ; SOX2-OT
1.000 0.160 3 181712823 stop gained C/G;T snv 4.4E-06
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 0
dbSNP: rs104893804
rs104893804
SOX2 ; SOX2-OT
1.000 0.160 3 181712523 stop gained C/T snv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 0
dbSNP: rs104893806
rs104893806
SOX2 ; SOX2-OT
1.000 0.160 3 181712498 missense variant T/G snv
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.700 0