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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.840 | 1.000 | 9 | 2008 | 2017 | ||||||
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||||
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||||
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.890 | 0.800 | 10 | 2011 | 2019 | |||||||
|
0.851 | 0.200 | 2 | 43494369 | intron variant | C/T | snv | 0.61 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.820 | 0.750 | 4 | 2011 | 2019 | |||||||
|
0.851 | 0.200 | 2 | 43494369 | intron variant | C/T | snv | 0.61 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 2 | 43494369 | intron variant | C/T | snv | 0.61 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 2 | 43494369 | intron variant | C/T | snv | 0.61 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 2 | 43494369 | intron variant | C/T | snv | 0.61 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.160 | 2 | 43326810 | intron variant | T/C | snv | 0.80 |
|
Neoplasms; Male Urogenital Diseases | 0.720 | 0.800 | 5 | 2009 | 2019 | |||||||
|
0.882 | 0.160 | 2 | 43326810 | intron variant | T/C | snv | 0.80 |
|
Neoplasms; Male Urogenital Diseases | 0.720 | 0.667 | 3 | 2009 | 2016 | |||||||
|
0.882 | 0.160 | 2 | 43326810 | intron variant | T/C | snv | 0.80 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 2 | 43334022 | intron variant | C/A | snv | 0.48 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.120 | 2 | 43334641 | intron variant | G/A | snv | 0.45 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
1.000 | 0.120 | 2 | 43580926 | intron variant | C/T | snv | 0.70 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 2 | 43511034 | intron variant | T/A;C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |