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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 1.000 | 0.973 | 75 | 2007 | 2019 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 1.000 | 11 | 2009 | 2020 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Endocrine System Diseases | 0.100 | 1.000 | 11 | 2009 | 2020 | |||||||
|
1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.820 | 1.000 | 10 | 2008 | 2019 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.070 | 0.714 | 7 | 2008 | 2019 | |||||||
|
1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.060 | 1.000 | 6 | 2009 | 2018 | |||||||
|
1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.720 | 1.000 | 3 | 2010 | 2012 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2014 | 2017 | |||||||
|
1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 117153084 | stop gained | C/T | snv | 2.4E-04 | 9.8E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||||
|
0.925 | 0.120 | 8 | 117013406 | intron variant | T/A;G | snv |
|
Cardiovascular Diseases | 0.710 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 8 | 117026998 | intron variant | G/A | snv | 0.65 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 8 | 117016058 | intron variant | A/G | snv | 0.12 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 8 | 117030818 | intron variant | G/C | snv | 6.9E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 8 | 117016206 | intron variant | G/A | snv | 0.15 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |