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 | 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 | |||||||||
|
0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 5 | 2003 | 2015 | ||||||
|
0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.120 | 18 | 60371428 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.925 | 0.120 | 18 | 60371428 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 18 | 60371445 | missense variant | T/A | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 18 | 60371454 | missense variant | G/A;T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
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 | 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 | |||||||||
|
1.000 | 0.080 | 18 | 60371514 | frameshift variant | CA/-;CACA | delins |
|
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 | 60371538 | missense variant | C/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 0 | ||||||||||
|
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 | |||||||
|
0.925 | 0.120 | 18 | 60371539 | missense variant | A/G | snv | 4.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 18 | 60371544 | missense variant | A/T | snv | 1.0E-03 | 1.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2020 | 2020 | ||||||
|
1.000 | 0.080 | 18 | 60371593 | missense variant | C/T | snv | 5.6E-05 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.810 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.080 | 18 | 60371596 | missense variant | C/T | snv | 4.0E-05 | 7.7E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 18 | 60371599 | missense variant | T/G | snv | 6.9E-03 | 7.6E-03 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.040 | 0.500 | 4 | 2007 | 2015 | ||||||
|
0.827 | 0.160 | 18 | 60371599 | missense variant | T/G | snv | 6.9E-03 | 7.6E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.827 | 0.160 | 18 | 60371599 | missense variant | T/G | snv | 6.9E-03 | 7.6E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.827 | 0.160 | 18 | 60371599 | missense variant | T/G | snv | 6.9E-03 | 7.6E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.160 | 18 | 60371599 | missense variant | T/G | snv | 6.9E-03 | 7.6E-03 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.827 | 0.160 | 18 | 60371599 | missense variant | T/G | snv | 6.9E-03 | 7.6E-03 |
|
Mental Disorders | 0.010 | < 0.001 | 1 | 2015 | 2015 |