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 | 2 | 226755230 | intron variant | G/A | snv | 9.0E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 2 | 226732872 | 3 prime UTR variant | A/G | snv | 0.10 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 2 | 226732872 | 3 prime UTR variant | A/G | snv | 0.10 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 226798113 | missense variant | A/G | snv | 5.6E-05 | 2.1E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||||
|
1.000 | 0.080 | 2 | 226796313 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.882 | 0.120 | 2 | 226796327 | synonymous variant | T/C | snv | 0.18 | 0.20 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.120 | 2 | 226796327 | synonymous variant | T/C | snv | 0.18 | 0.20 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.120 | 2 | 226796327 | synonymous variant | T/C | snv | 0.18 | 0.20 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.160 | 2 | 226797205 | missense variant | C/G | snv | 1.4E-02 | 1.3E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.160 | 2 | 226797205 | missense variant | C/G | snv | 1.4E-02 | 1.3E-02 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 |