OTX2, orthodenticle homeobox 2, 5015
N. diseases: 200; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 14 | 56802340 | stop gained | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 4 | 2005 | 2013 | ||||||||
|
1.000 | 0.080 | 14 | 56804202 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 56802068 | stop gained | A/G;T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 14 | 56801845 | frameshift variant | GTTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56802202 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56801956 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56802199 | frameshift variant | -/AG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56802335 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56804201 | frameshift variant | GGGCAAGTTGATTTTC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56802208 | missense variant | G/C;T | snv | 4.0E-06; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 14 | 56802043 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56802205 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 14 | 56802140 | frameshift variant | -/GC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56805376 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56802192 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 56802313 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 |