ABCA4, ATP binding cassette subfamily A member 4, 24
N. diseases: 227; N. variants: 372
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 1 | 94041345 | missense variant | C/A;T | snv | 3.1E-04; 4.0E-06 |
|
Eye Diseases | 0.800 | 0 | ||||||||||
|
0.882 | 0.040 | 1 | 94007731 | missense variant | G/A | snv | 3.0E-03 | 3.6E-03 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 1997 | 2009 | ||||||
|
0.925 | 0.040 | 1 | 94055245 | missense variant | C/G;T | snv | 2.1E-04 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 1997 | 2009 | |||||||
|
0.882 | 0.080 | 1 | 94007710 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 1997 | 2009 | ||||||
|
0.851 | 0.080 | 1 | 94021934 | missense variant | A/G | snv | 1.2E-03 | 1.3E-03 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 1 | 94077833 | missense variant | C/T | snv | 8.3E-04 | 8.9E-04 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 1 | 94030497 | missense variant | G/A | snv | 4.6E-03 | 1.6E-03 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 1 | 94025039 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 1 | 94021887 | missense variant | C/T | snv | 8.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 1 | 94010821 | missense variant | C/T | snv | 1.6E-03 | 1.5E-03 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 1 | 94111561 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.080 | 1 | 94063224 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 1 | 94060740 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.080 | 1 | 94031110 | missense variant | G/A | snv | 2.4E-04 | 2.3E-04 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 1 | 94029522 | missense variant | A/G | snv | 8.2E-06 | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.080 | 1 | 94098928 | missense variant | G/A;T | snv | 1.1E-04; 8.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.080 | 1 | 94005499 | missense variant | C/T | snv | 3.5E-04 | 4.7E-04 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.080 | 1 | 94005500 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 1 | 94007722 | frameshift variant | C/- | del | 2.8E-05 | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 1 | 94005509 | missense variant | G/A | snv | 2.0E-04 | 1.7E-04 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 1 | 94005470 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 |
|
Eye Diseases | 0.700 | 0 |