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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 17461731 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 5 | 2006 | 2007 | ||||||||
|
0.882 | 0.160 | 11 | 17395852 | stop gained | C/A;T | snv | 1.5E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||||
|
1.000 | 0.080 | 11 | 17474961 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||||||
|
0.851 | 0.240 | 11 | 17470119 | missense variant | A/C;G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 17461778 | missense variant | G/A;T | snv | 3.2E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||||
|
1.000 | 0.080 | 11 | 17461767 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 17453151 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 17395647 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 17404518 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2006 | 2007 | |||||||
|
1.000 | 0.080 | 11 | 17461719 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2006 | 2007 | ||||||
|
1.000 | 0.080 | 11 | 17461618 | missense variant | A/C | snv | 2.0E-05 | 2.8E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2006 | 2007 | ||||||
|
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 | ||||||||||
|
1.000 | 0.080 | 11 | 17395652 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 17402718 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 11 | 17474884 | splice donor variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 11 | 17395611 | stop gained | G/A | snv | 1.3E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 11 | 17393122 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 17474919 | missense variant | A/C;G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 17470109 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 17461774 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 17404515 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 17397205 | missense variant | C/T | snv | 1.6E-04 | 5.6E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 11 | 17476643 | missense variant | G/A | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 11 | 17394379 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 11 | 17412716 | stop gained | G/A | snv | 6.1E-05 | 2.1E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 |