ABCA1, ATP binding cassette subfamily A member 1, 19
N. diseases: 291; N. variants: 116
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 12 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 |
|
0.800 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
9 | 104903458 | intron variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||||
|
0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
0.925 | 0.080 | 9 | 104894789 | intron variant | G/A | snv | 0.14 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||
|
1.000 | 0.040 | 9 | 104832083 | intron variant | A/G | snv | 0.16 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
9 | 104884738 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 104839260 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 104903697 | 5 prime UTR variant | C/A;G;T | snv | 5.4E-06; 0.14 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
9 | 104828991 | synonymous variant | G/T | snv | 0.20 | 0.23 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
9 | 104886314 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
9 | 104827286 | intron variant | C/T | snv | 5.8E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
9 | 104898869 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 104896629 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 104906792 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 104886684 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 104873588 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 9 | 104826974 | missense variant | C/G;T | snv | 4.3E-04; 5.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
9 | 104904133 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 104888931 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 104889245 | intron variant | A/G | snv | 0.14 | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |