ABCA4, ATP binding cassette subfamily A member 4, 24
N. diseases: 155; N. variants: 38
Source: BEFREE ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.830 | 1.000 | 3 | 1997 | 2019 | |||||||
|
0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 |
|
0.830 | 1.000 | 3 | 1997 | 2019 | ||||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.820 | 1.000 | 2 | 1997 | 2019 | |||||||
|
0.851 | 0.080 | 1 | 94041345 | missense variant | C/A;T | snv | 3.1E-04; 4.0E-06 |
|
0.810 | 1.000 | 1 | 1997 | 2017 | ||||||||
|
0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 |
|
0.810 | 1.000 | 1 | 1997 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 94062710 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.810 | 1.000 | 1 | 1997 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 94029515 | missense variant | C/T | snv | 6.3E-05 | 5.6E-05 |
|
0.810 | 1.000 | 1 | 1997 | 2017 | |||||||
|
1.000 | 1 | 94010911 | missense variant | T/A | snv | 4.3E-02 | 4.1E-02 |
|
0.730 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.851 | 0.080 | 1 | 94014675 | missense variant | GG/CA | mnv |
|
0.710 | 1.000 | 1 | 1997 | 2014 | |||||||||
|
0.925 | 0.120 | 1 | 94000870 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.710 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 1 | 94014590 | missense variant | T/C | snv | 3.2E-05 |
|
0.710 | 1.000 | 1 | 1997 | 2014 | |||||||||
|
0.851 | 0.080 | 1 | 94005470 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.710 | 1.000 | 1 | 2003 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 |
|
0.710 | 1.000 | 1 | 1999 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 94047009 | missense variant | C/A;T | snv | 2.8E-05; 3.0E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 1 | 94080709 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |