CYP4V2, cytochrome P450 family 4 subfamily V member 2, 285440
N. diseases: 42; N. variants: 41
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 | 4 | 186205204 | missense variant | A/C | snv | 7.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 7 | 2004 | 2017 | |||||||
|
1.000 | 0.080 | 4 | 186205233 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 2 | 2004 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 186196007 | missense variant | T/C;G | snv | 4.8E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.720 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1.000 | 0.080 | 4 | 186205232 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 4 | 186201149 | splice acceptor variant | TCATACAGGTCATCGCT/GC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 14 | 2004 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 186208863 | splice acceptor variant | A/G | snv | 4.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 5 | 2004 | 2014 | |||||||
|
1.000 | 0.080 | 4 | 186196042 | missense variant | A/G | snv | 7.9E-04 | 2.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 2 | 2004 | 2012 | ||||||
|
1.000 | 0.080 | 4 | 186194522 | missense variant | G/T | snv | 2.7E-04 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 2 | 2004 | 2012 | ||||||
|
1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 186210350 | intron variant | G/A | snv | 0.90 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
4 | 186199599 | intron variant | A/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 186201165 | synonymous variant | T/A;G | snv | 1.6E-05; 0.59 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 4 | 186192020 | missense variant | T/G | snv | 4.1E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 186200855 | intron variant | C/A | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 4 | 186191953 | missense variant | T/A;C | snv | 2.3E-04; 1.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 4 | 186210586 | missense variant | G/A | snv | 3.6E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 4 | 186192004 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 4 | 186210508 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 4 | 186194613 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 4 | 186209087 | splice acceptor variant | TGACAGCAGGTTACAG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 4 | 186194538 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 4 | 186194568 | missense variant | G/A | snv | 4.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 4 | 186196010 | stop gained | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 4 | 186196075 | stop gained | G/T | snv | 2.0E-04 | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 4 | 186197044 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 |