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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.730 | 1.000 | 11 | 1997 | 2012 | |||||||
|
0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 |
|
0.720 | 1.000 | 8 | 1997 | 2014 | ||||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.710 | 1.000 | 12 | 1997 | 2016 | |||||||
|
1.000 | 1 | 94014685 | missense variant | G/A | snv | 7.6E-05 | 7.0E-06 |
|
0.710 | 1.000 | 6 | 2008 | 2018 | ||||||||
|
0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 |
|
0.700 | 1.000 | 19 | 1998 | 2017 | |||||||
|
1.000 | 1 | 94111579 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 |
|
0.700 | 1.000 | 11 | 1999 | 2015 | |||||||||
|
0.851 | 0.080 | 1 | 94005509 | missense variant | G/A | snv | 2.0E-04 | 1.7E-04 |
|
0.700 | 1.000 | 6 | 1997 | 2014 | |||||||
|
0.882 | 0.040 | 1 | 94007731 | missense variant | G/A | snv | 3.0E-03 | 3.6E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 1 | 94030991 | splice region variant | C/A;T | snv | 1.2E-05 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 1 | 94010795 | splice region variant | C/A;T | snv | 3.1E-04 | 3.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 1 | 94008767 | missense variant | A/G | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 1 | 94007727 | missense variant | A/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 94010911 | missense variant | T/A | snv | 4.3E-02 | 4.1E-02 |
|
0.030 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 94098928 | missense variant | G/A;T | snv | 1.1E-04; 8.0E-06 |
|
0.020 | 1.000 | 2 | 1998 | 1999 | ||||||||
|
1.000 | 1 | 94120994 | missense variant | G/A;T | snv | 1.6E-05; 3.6E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 94078678 | missense variant | T/C;G | snv | 0.26 | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 1 | 94042767 | missense variant | G/A | snv | 1.2E-04 | 1.8E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 1 | 94042797 | missense variant | G/A | snv | 2.4E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 |