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 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 |
|
0.830 | 1.000 | 37 | 1997 | 2019 | ||||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.820 | 1.000 | 32 | 1997 | 2019 | |||||||
|
0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 |
|
0.800 | 1.000 | 29 | 1997 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 94029515 | missense variant | C/T | snv | 6.3E-05 | 5.6E-05 |
|
0.810 | 1.000 | 28 | 1997 | 2017 | |||||||
|
0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 |
|
0.810 | 1.000 | 26 | 1997 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 94062710 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.810 | 1.000 | 25 | 1997 | 2017 | |||||||
|
0.882 | 0.160 | 1 | 94042767 | missense variant | G/A | snv | 1.2E-04 | 1.8E-04 |
|
0.800 | 1.000 | 25 | 1997 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 94000866 | missense variant | C/T | snv | 2.4E-05 | 4.9E-05 |
|
0.800 | 1.000 | 25 | 1997 | 2017 | |||||||
|
0.851 | 0.080 | 1 | 94005509 | missense variant | G/A | snv | 2.0E-04 | 1.7E-04 |
|
0.800 | 1.000 | 25 | 1997 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 94040048 | missense variant | A/C | snv | 6.7E-03 | 2.8E-02 |
|
0.800 | 1.000 | 24 | 1997 | 2017 | |||||||
|
0.790 | 0.080 | 1 | 94005499 | missense variant | C/T | snv | 3.5E-04 | 4.7E-04 |
|
0.800 | 1.000 | 24 | 1997 | 2017 | |||||||
|
1.000 | 1 | 94111579 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 |
|
0.800 | 1.000 | 23 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94031027 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 |
|
0.800 | 1.000 | 23 | 1997 | 2017 | ||||||||
|
0.851 | 0.080 | 1 | 94029522 | missense variant | A/G | snv | 8.2E-06 | 7.0E-06 |
|
0.800 | 1.000 | 23 | 1997 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 94001911 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 23 | 1997 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 94021339 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 |
|
0.800 | 1.000 | 23 | 1997 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 94021340 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 |
|
0.800 | 1.000 | 23 | 1997 | 2019 | ||||||||
|
1.000 | 1 | 94048921 | missense variant | G/A | snv | 1.2E-03 | 1.3E-03 |
|
0.800 | 1.000 | 22 | 1997 | 2017 | ||||||||
|
1.000 | 1 | 94001072 | missense variant | G/A | snv | 1.0E-04 | 3.3E-04 |
|
0.800 | 1.000 | 22 | 1997 | 2017 | ||||||||
|
1.000 | 1 | 94056683 | missense variant | A/T | snv | 2.0E-05 | 3.5E-05 |
|
0.800 | 1.000 | 22 | 1997 | 2017 | ||||||||
|
1.000 | 1 | 94062692 | missense variant | A/G;T | snv | 1.2E-05 |
|
0.800 | 1.000 | 22 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94042828 | missense variant | T/G | snv |
|
0.800 | 1.000 | 22 | 1997 | 2017 | ||||||||||
|
1.000 | 1 | 94031054 | stop gained | C/A;T | snv | 1.2E-05; 2.4E-05 |
|
0.800 | 1.000 | 22 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94120994 | missense variant | G/A;T | snv | 1.6E-05; 3.6E-05 |
|
0.800 | 1.000 | 21 | 1997 | 2017 | |||||||||
|
0.925 | 0.040 | 1 | 94063263 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 |
|
0.800 | 1.000 | 21 | 1997 | 2017 |