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 | 0.080 | 2 | 21002287 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 21002292 | frameshift variant | AT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 21002296 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 2 | 21022861 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 21025071 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 21005391 | missense variant | G/A;T | snv | 1.7E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 21006088 | missense variant | A/C;G;T | snv | 6.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 21006100 | stop gained | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 21015387 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 21002254 | missense variant | C/A;G | snv | 8.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 21002264 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 |