ABCB11, ATP binding cassette subfamily B member 11, 8647
N. diseases: 126; N. variants: 82
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 168927903 | intron variant | C/T | snv | 6.6E-02 |
|
0.700 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
2 | 168974151 | intron variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
2 | 168973645 | intron variant | G/A | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2013 | 2018 | ||||||||||
|
2 | 168944978 | intron variant | A/G;T | snv | 0.75 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
2 | 168974151 | intron variant | G/A | snv | 0.57 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 168974288 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 168944893 | synonymous variant | T/C | snv | 5.8E-03 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 168944893 | synonymous variant | T/C | snv | 5.8E-03 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 168944893 | synonymous variant | T/C | snv | 5.8E-03 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 168964291 | missense variant | C/T | snv | 3.4E-03 | 4.9E-03 |
|
Digestive System Diseases; Chemically-Induced Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 168927903 | intron variant | C/T | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 168966582 | intron variant | G/A | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168966582 | intron variant | G/A | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168966582 | intron variant | G/A | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168984064 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 169013785 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 169013785 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 169013785 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 168974005 | intron variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 168974005 | intron variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 168973645 | intron variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 168973262 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 168967357 | intron variant | G/A;C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 168967357 | intron variant | G/A;C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 168920236 | intron variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |