ABCC8, ATP binding cassette subfamily C member 8, 6833
N. diseases: 317; N. variants: 213
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 11 | 17395915 | missense variant | G/A;T | snv | 5.0E-06; 2.0E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 11 | 17395915 | missense variant | G/A;T | snv | 5.0E-06; 2.0E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 11 | 17430887 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 11 | 17430839 | stop gained | G/A | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 11 | 17476966 | non coding transcript exon variant | G/A;C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 |