ADIPOQ, adiponectin, C1Q and collagen domain containing, 9370
N. diseases: 679; N. variants: 45
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 3 | 186854303 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2003 | 2003 | ||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.280 | 3 | 186854300 | missense variant | T/C | snv | 2.2E-02 | 2.1E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 3 | 186854219 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 3 | 186854237 | missense variant | G/A | snv | 3.0E-03 | 2.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.882 | 0.160 | 3 | 186848537 | intron variant | C/T | snv | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |