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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.050 | 1.000 | 5 | 2006 | 2016 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Immune System Diseases | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 1 | 157677736 | 3 prime UTR variant | A/T | snv | 0.28 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.120 | 1 | 157677999 | 3 prime UTR variant | C/A | snv | 0.63 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2019 | 2020 | |||||||
|
1.000 | 0.120 | 1 | 157677999 | 3 prime UTR variant | C/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 1 | 157700500 | 5 prime UTR variant | C/A;G | snv | 5.6E-05; 0.45 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.200 | 1 | 157700500 | 5 prime UTR variant | C/A;G | snv | 5.6E-05; 0.45 |
|
Eye Diseases; Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.200 | 1 | 157700500 | 5 prime UTR variant | C/A;G | snv | 5.6E-05; 0.45 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.200 | 1 | 157700500 | 5 prime UTR variant | C/A;G | snv | 5.6E-05; 0.45 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.710 | 1.000 | 2 | 2006 | 2015 | ||||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
Immune System Diseases; Nervous System Diseases | 0.710 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |