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 | 1 | 65618108 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 1998 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 65513597 | intron variant | T/A;C | snv | 0.17 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 1 | 65513597 | intron variant | T/A;C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 65438196 | intron variant | A/G | snv | 0.15 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 65419886 | upstream gene variant | G/C | snv | 0.46 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 65605061 | missense variant | T/C | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 1 | 65572246 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 65572246 | intron variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 65526942 | intron variant | C/A;T | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 65480438 | intron variant | G/A | snv | 0.69 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.160 | 1 | 65513234 | intron variant | T/C | snv | 0.21 |
|
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 | |||||||
|
1.000 | 0.080 | 1 | 65616036 | missense variant | G/C | snv | 8.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 1998 | 1998 | ||||||
|
1.000 | 0.040 | 1 | 65428659 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 1 | 65420715 | 5 prime UTR variant | T/A;C;G | snv | 0.51 |
|
Respiratory Tract Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 65570511 | missense variant | C/G | snv | 1.6E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1.000 | 0.080 | 1 | 65570511 | missense variant | C/G | snv | 1.6E-05 | 1.4E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 1 | 65621389 | missense variant | A/C;G | snv | 8.0E-06; 2.0E-05 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 1 | 65610269 | missense variant | G/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 65610269 | missense variant | G/C;T | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 65610269 | missense variant | G/C;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 1 | 65442790 | intron variant | A/C | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 1 | 65445989 | intron variant | G/A;T | snv | 0.33 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 1 | 65636776 | frameshift variant | -/AG | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 65572419 | missense variant | A/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 1 | 65636397 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 |