ABCB4, ATP binding cassette subfamily B member 4, 5244
N. diseases: 157; N. variants: 65
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.040 | 7 | 87447080 | missense variant | G/A | snv | 1.6E-04 | 1.7E-04 |
|
Digestive System Diseases | 0.810 | 1.000 | 7 | 2001 | 2017 | ||||||
|
1.000 | 0.040 | 7 | 87406293 | missense variant | G/A;T | snv | 2.4E-05 |
|
Digestive System Diseases | 0.710 | 1.000 | 7 | 2001 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 87439814 | missense variant | C/G | snv | 2.1E-03 | 8.7E-03 |
|
Digestive System Diseases | 0.710 | 1.000 | 7 | 2001 | 2017 | ||||||
|
0.827 | 0.080 | 7 | 87409385 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 7 | 87440228 | missense variant | C/T | snv | 7.0E-06 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 87408066 | missense variant | G/A | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 87454583 | missense variant | G/A | snv | 4.0E-06 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 87472655 | missense variant | G/A;T | snv | 4.8E-04; 8.0E-06; 4.0E-06 | 1.2E-03 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | ||||||
|
1.000 | 0.040 | 7 | 87431519 | missense variant | G/A | snv | 3.2E-05 | 2.8E-05 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | ||||||
|
0.882 | 0.080 | 7 | 87439777 | missense variant | T/A | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 87431525 | missense variant | A/T | snv | 4.0E-06 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 87447137 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 87411894 | missense variant | G/C | snv | 4.0E-06 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 87439752 | missense variant | C/A;T | snv | 8.0E-06; 3.6E-05 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | |||||||
|
0.925 | 0.040 | 7 | 87447182 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | ||||||
|
0.925 | 0.040 | 7 | 87462827 | missense variant | G/C | snv | 7.2E-04 | 7.3E-04 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2017 | ||||||
|
1.000 | 0.040 | 7 | 87462811 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 7 | 87423940 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 7 | 87440230 | missense variant | T/C | snv | 2.0E-04 | 9.8E-05 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 7 | 87443346 | frameshift variant | CT/TTG | delins |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 87439765 | missense variant | G/A;C | snv | 8.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 7 | 87431528 | missense variant | C/G;T | snv | 4.0E-06; 4.5E-03 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 7 | 87462832 | missense variant | A/T | snv | 4.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 7 | 87423931 | missense variant | G/A | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 87426875 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases | 0.700 | 0 |