NR2E3, nuclear receptor subfamily 2 group E member 3, 10002
N. diseases: 90; N. variants: 31
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 71814833 | 3 prime UTR variant | C/G | snv | 3.4E-03 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
15 | 71814833 | 3 prime UTR variant | C/G | snv | 3.4E-03 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 9 | 2000 | 2013 | ||||||
|
0.882 | 0.160 | 15 | 71811553 | inframe deletion | ACGGCTGCA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 2000 | 2016 | ||||||||
|
0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 6 | 2000 | 2014 | ||||||
|
0.851 | 0.080 | 15 | 71811530 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.080 | 15 | 71814051 | frameshift variant | TGCAG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 71811507 | frameshift variant | GC/AGTGTGCCTCCAGTGCCTCGCTCCA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 15 | 71811530 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.720 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 2 | 2009 | 2019 | ||||||
|
0.925 | 0.080 | 15 | 71812102 | missense variant | C/G | snv | 6.2E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.080 | 15 | 71812410 | missense variant | G/A | snv | 3.6E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.160 | 15 | 71811553 | inframe deletion | ACGGCTGCA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 71811831 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.160 | 15 | 71813408 | missense variant | C/A;T | snv | 3.7E-05; 2.1E-05 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 15 | 71811831 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 15 | 71817619 | frameshift variant | TTT/-;T;TT | delins | 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 2000 | 2017 |