CYP1B1, cytochrome P450 family 1 subfamily B member 1, 1545
N. diseases: 304; N. variants: 73
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 2 | 38075218 | stop gained | C/G;T | snv | 1.7E-04 |
|
Eye Diseases | 0.800 | 1.000 | 23 | 1998 | 2012 | |||||||
|
0.925 | 0.120 | 2 | 38071234 | missense variant | C/T | snv |
|
Eye Diseases | 0.800 | 1.000 | 20 | 1998 | 2008 | ||||||||
|
1.000 | 0.040 | 2 | 38074695 | missense variant | C/G | snv | 7.0E-06 |
|
Eye Diseases | 0.800 | 1.000 | 20 | 1998 | 2008 | |||||||
|
0.925 | 0.040 | 2 | 38071087 | missense variant | T/A | snv | 1.2E-05 | 7.0E-06 |
|
Eye Diseases | 0.800 | 1.000 | 20 | 1998 | 2008 | ||||||
|
0.776 | 0.120 | 2 | 38075207 | missense variant | C/G;T | snv | 5.0E-06; 3.2E-04 |
|
Eye Diseases | 0.800 | 1.000 | 20 | 1998 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 38070949 | missense variant | G/A | snv | 4.8E-05 | 3.5E-05 |
|
Eye Diseases | 0.800 | 1.000 | 20 | 1998 | 2008 | ||||||
|
0.882 | 0.120 | 2 | 38071195 | missense variant | C/G;T | snv | 2.9E-04 |
|
Eye Diseases | 0.800 | 1.000 | 20 | 1998 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 38071186 | missense variant | G/A;T | snv | 2.4E-05; 1.6E-05 |
|
Eye Diseases | 0.800 | 1.000 | 5 | 2004 | 2011 | |||||||
|
0.763 | 0.120 | 2 | 38071251 | missense variant | C/T | snv | 5.8E-03 | 1.7E-03 |
|
Eye Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.040 | 2 | 38074781 | missense variant | T/C | snv | 2.4E-05 | 7.0E-06 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | ||||||
|
1.000 | 0.040 | 2 | 38074811 | missense variant | G/A;C | snv | 1.2E-04; 5.7E-06 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | |||||||
|
0.925 | 0.120 | 2 | 38071185 | missense variant | C/T | snv | 9.2E-05 | 7.7E-05 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | ||||||
|
1.000 | 0.040 | 2 | 38071044 | missense variant | G/A;T | snv | 8.0E-06; 2.0E-05 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 38070858 | missense variant | T/C | snv |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | ||||||||
|
1.000 | 0.040 | 2 | 38071023 | missense variant | C/G;T | snv | 1.2E-05 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 38071158 | missense variant | A/C | snv |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | ||||||||
|
0.925 | 0.120 | 2 | 38071264 | missense variant | C/T | snv | 1.6E-05 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 38074431 | missense variant | C/A;G;T | snv | 3.1E-04; 4.0E-06 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 38074745 | missense variant | C/A;G | snv | 1.5E-04; 4.9E-05 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 38075046 | missense variant | C/G;T | snv | 1.0E-05; 5.0E-06 |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 38070957 | missense variant | C/T | snv |
|
Eye Diseases | 0.700 | 1.000 | 20 | 1998 | 2008 | ||||||||
|
0.882 | 0.120 | 2 | 38071195 | missense variant | C/G;T | snv | 2.9E-04 |
|
Eye Diseases | 0.700 | 1.000 | 15 | 1998 | 2016 | |||||||
|
0.790 | 0.120 | 2 | 38075218 | stop gained | C/G;T | snv | 1.7E-04 |
|
Eye Diseases | 0.700 | 1.000 | 8 | 2001 | 2016 | |||||||
|
0.925 | 0.040 | 2 | 38071145 | frameshift variant | TGGCATGAGG/-;TGGCATGAGGTGGCATGAGG | delins |
|
Eye Diseases | 0.700 | 1.000 | 7 | 1998 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 38074854 | frameshift variant | C/- | delins | 4.9E-05 |
|
Eye Diseases | 0.700 | 1.000 | 6 | 2002 | 2016 |