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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 44355829 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 1.000 | 10 | 2006 | 2019 | |||||||
|
0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.830 | 1.000 | 7 | 2011 | 2017 | |||||||
|
0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 0.500 | 2 | 2016 | 2018 | |||||||
|
0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 20 | 44361137 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 20 | 44370990 | intron variant | A/C | snv | 0.37 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 20 | 44371003 | intron variant | C/G | snv | 0.76 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 20 | 44373081 | intron variant | C/T | snv | 0.14 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 20 | 44389620 | intron variant | G/A | snv | 0.12 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 20 | 44395368 | intron variant | T/C | snv | 0.33 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 20 | 44395409 | intron variant | G/T | snv | 0.42 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 20 | 44395409 | intron variant | G/T | snv | 0.42 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 20 | 44395409 | intron variant | G/T | snv | 0.42 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 20 | 44399397 | intron variant | A/G | snv | 0.63 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 20 | 44399750 | intron variant | A/C;G | snv |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 20 | 44401424 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||||
|
0.925 | 0.120 | 20 | 44401795 | intron variant | G/A | snv | 0.11 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.925 | 0.120 | 20 | 44401795 | intron variant | G/A | snv | 0.11 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
20 | 44405376 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 20 | 44406020 | intron variant | T/C | snv | 0.50 | 0.45 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |