OAT, ornithine aminotransferase, 4942
N. diseases: 92; N. variants: 71
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 | 10 | 124408917 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 124412009 | missense variant | A/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||||
|
1.000 | 0.080 | 10 | 124408887 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
0.851 | 0.160 | 10 | 124408601 | missense variant | C/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||||
|
1.000 | 0.080 | 10 | 124403019 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124403015 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124400875 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124403835 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||
|
1.000 | 0.080 | 10 | 124412010 | missense variant | G/T | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||
|
1.000 | 0.080 | 10 | 124401785 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124403820 | missense variant | C/G;T | snv | 4.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||||
|
1.000 | 0.080 | 10 | 124400941 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||
|
1.000 | 0.080 | 10 | 124398082 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124408897 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124397951 | missense variant | C/A;G;T | snv | 2.8E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | |||||||
|
1.000 | 0.080 | 10 | 124405488 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||
|
1.000 | 0.080 | 10 | 124398081 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124397955 | missense variant | A/T | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||
|
1.000 | 0.080 | 10 | 124408898 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124408854 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1988 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 124402930 | stop gained | G/C | snv | 1.6E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 2 | 1992 | 2012 | ||||||
|
1.000 | 0.080 | 10 | 124412020 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 10 | 124411967 | splice donor variant | ACGTACCT/TTAA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 124412119 | frameshift variant | -/CTCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 124408943 | splice acceptor variant | CTACATCCCATAAGTAAATACCTAAAATACATAAGAAAGGAAAATAATTTTAGACAATT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 |