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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 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 | |||||||
|
1.000 | 20 | 44414578 | stop gained | T/A | snv |
|
0.700 | 1.000 | 7 | 1996 | 2014 | ||||||||||
|
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 | |||||||
|
0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv |
|
0.800 | 1.000 | 7 | 2010 | 2017 | |||||||||
|
0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.070 | 1.000 | 7 | 2003 | 2017 | ||||||||
|
0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 6 | 2010 | 2017 | ||||||||
|
0.851 | 0.120 | 20 | 44406090 | missense variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.050 | 1.000 | 5 | 2005 | 2012 | ||||||||
|
1.000 | 0.080 | 20 | 44424243 | missense variant | T/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 1997 | 2007 | ||||||||
|
0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 1977 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 1977 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 2000 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2000 | 2013 | ||||||||
|
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 | 0.080 | 20 | 44406498 | intron variant | C/T | snv | 0.58 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 0.667 | 3 | 2005 | 2017 | |||||||
|
1.000 | 0.080 | 20 | 44410400 | intron variant | G/A | snv | 0.15 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2009 | 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 | |||||||
|
20 | 44427509 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 20 | 44424278 | missense variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.120 | 20 | 44406090 | missense variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 20 | 44406090 | missense variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 20 | 44406090 | missense variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 20 | 44406090 | missense variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |