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 | 168920236 | intron variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168925843 | intron variant | A/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168925639 | intron variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168932796 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 168918449 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 168928445 | intron variant | A/C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168920404 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 168918136 | intron variant | C/T | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168934928 | intron variant | A/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168921085 | 3 prime UTR variant | C/T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168917561 | intron variant | C/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168917561 | intron variant | C/A | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
2 | 168926699 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 2 | 168926370 | intron variant | A/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
2 | 168926359 | intron variant | T/C | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168924308 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 168919850 | intron variant | G/T | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168926529 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 168919630 | intron variant | T/A | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168919611 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 169011063 | intron variant | T/C | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 169011063 | intron variant | T/C | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 169011063 | intron variant | T/C | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 168977860 | intron variant | G/A | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 168955707 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |