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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 94062695 | missense variant | C/A;G;T | snv | 2.8E-05 |
|
0.800 | 1.000 | 21 | 1997 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 94062611 | stop gained | G/A;T | snv |
|
0.800 | 1.000 | 21 | 1997 | 2017 | |||||||||
|
0.851 | 0.080 | 1 | 94060740 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.800 | 1.000 | 21 | 1997 | 2017 | |||||||
|
1.000 | 1 | 94043462 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.800 | 1.000 | 21 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94029527 | missense variant | G/A | snv | 1.2E-04 | 9.1E-05 |
|
0.800 | 1.000 | 21 | 1997 | 2017 | ||||||||
|
1.000 | 1 | 94005476 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 |
|
0.800 | 1.000 | 21 | 1997 | 2017 | ||||||||
|
1.000 | 1 | 94024994 | missense variant | C/T | snv | 1.1E-04 | 6.3E-05 |
|
0.800 | 1.000 | 21 | 1997 | 2017 | ||||||||
|
0.851 | 0.080 | 1 | 94014675 | missense variant | GG/CA | mnv |
|
0.710 | 1.000 | 20 | 1997 | 2014 | |||||||||
|
0.851 | 0.080 | 1 | 94111561 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | |||||||
|
1.000 | 1 | 94063157 | missense variant | C/G;T | snv | 4.8E-05 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94056692 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94047010 | missense variant | G/A;C | snv | 8.0E-05 |
|
0.700 | 1.000 | 20 | 1997 | 2014 | |||||||||
|
1.000 | 1 | 94042766 | missense variant | C/A;T | snv | 1.6E-05 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | |||||||||
|
0.807 | 0.080 | 1 | 94031110 | missense variant | G/A | snv | 2.4E-04 | 2.3E-04 |
|
0.800 | 1.000 | 20 | 1997 | 2019 | |||||||
|
1.000 | 1 | 94030452 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | ||||||||
|
1.000 | 1 | 94029521 | missense variant | C/A;T | snv | 8.2E-06 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | |||||||||
|
0.790 | 0.080 | 1 | 94098928 | missense variant | G/A;T | snv | 1.1E-04; 8.0E-06 |
|
0.800 | 1.000 | 20 | 1997 | 2019 | ||||||||
|
1.000 | 1 | 94019691 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-05 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94111526 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.800 | 1.000 | 20 | 1997 | 2019 | ||||||||
|
1.000 | 1 | 94019713 | missense variant | A/G | snv | 4.0E-06 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94019664 | missense variant | C/A;T | snv | 8.0E-06; 1.1E-04 |
|
0.800 | 1.000 | 20 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 94015763 | missense variant | A/G | snv |
|
0.800 | 1.000 | 20 | 1997 | 2017 | ||||||||||
|
1.000 | 1 | 94014590 | missense variant | T/C | snv | 3.2E-05 |
|
0.710 | 1.000 | 20 | 1997 | 2014 | |||||||||
|
0.882 | 0.080 | 1 | 94008767 | missense variant | A/G | snv | 2.0E-05 |
|
0.800 | 1.000 | 20 | 1997 | 2014 | ||||||||
|
1.000 | 1 | 94024978 | missense variant | G/A | snv | 1.3E-04 | 5.6E-05 |
|
0.800 | 1.000 | 20 | 1997 | 2017 |