APOB, apolipoprotein B, 338
N. diseases: 339; N. variants: 122
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 2 | 21013379 | stop gained | G/A;C | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 21011301 | frameshift variant | CA/- | delins | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 21003241 | frameshift variant | C/- | del |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 21010615 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 2 | 21007668 | frameshift variant | T/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 21012439 | stop gained | G/A;C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 21009304 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 2 | 21011630 | stop gained | A/C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 2 | 21013287 | stop gained | G/C;T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 21015144 | stop gained | TAGCATACATAT/CCTAAG | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 2 | 21022861 | frameshift variant | G/-;GG | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 21011602 | frameshift variant | TTGT/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 21004451 | splice acceptor variant | C/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 21011405 | frameshift variant | C/- | del | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 21012516 | frameshift variant | C/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 21005156 | frameshift variant | G/- | del | 4.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 2 | 21033517 | splice acceptor variant | -/CC | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 21006235 | stop gained | C/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 2 | 21029900 | missense variant | G/A;T | snv | 8.0E-06; 2.0E-05 |
|
Nutritional and Metabolic Diseases | 0.040 | 1.000 | 4 | 2003 | 2009 |