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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 34462995 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 34455578 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2006 | 2018 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Eye Diseases | 0.020 | 0.500 | 2 | 2013 | 2018 | |||||||
|
1.000 | 0.080 | 11 | 34439050 | stop gained | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2012 | 2012 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |