MC4R, melanocortin 4 receptor, 4160
N. diseases: 149; N. variants: 58
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 | 18 | 60371539 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.720 | 1.000 | 2 | 2003 | 2008 | |||||||
|
1.000 | 0.080 | 18 | 60372202 | missense variant | C/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 18 | 60372178 | missense variant | T/A | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 18 | 60372045 | missense variant | A/C;G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 18 | 60372165 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.080 | 18 | 60371829 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 18 | 60371538 | missense variant | C/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 0 | ||||||||||
|
1.000 | 0.080 | 18 | 60372061 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 60371694 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 60372117 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 60371857 | missense variant | G/A;T | snv | 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 18 | 60371808 | missense variant | C/T | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 18 | 60371812 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 18 | 60371514 | frameshift variant | CA/-;CACA | delins |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 18 | 60371454 | missense variant | G/A;T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 18 | 60372286 | stop gained | GT/- | delins | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 18 | 60372131 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 18 | 60371601 | missense variant | A/T | snv | 1.6E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 18 | 60371400 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 18 | 60371529 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 18 | 60371943 | missense variant | G/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 18 | 60372189 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 18 | 60371467 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1.000 | 0.080 | 18 | 60371512 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 |