CYP1B1-AS1, CYP1B1 antisense RNA 1, 285154
N. diseases: 12; N. variants: 43
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 | |||||||
|
1.000 | 0.040 | 2 | 38074695 | missense variant | C/G | snv | 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 | 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 | |||||||
|
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 | 38074404 | missense variant | C/T | snv | 1.2E-05 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2011 | 2016 | |||||||
|
1.000 | 0.040 | 2 | 38074606 | missense variant | G/T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 2 | 38074704 | missense variant | C/T | snv | 1.1E-02 | 5.7E-03 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 2 | 38074797 | missense variant | C/T | snv | 2.8E-04 | 9.1E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 2 | 38074356 | missense variant | G/A;C | snv | 1.2E-04 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 38074958 | missense variant | T/C | snv | 4.3E-05 | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.080 | 2 | 38075306 | missense variant | G/C | snv | 2.5E-05 | 4.2E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.120 | 2 | 38075148 | missense variant | A/T | snv | 3.6E-03 | 3.6E-03 |
|
Eye Diseases | 0.700 | 0 |