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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 21 | 31663832 | missense variant | C/G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 1 | 1993 | 2012 | |||||||
|
0.925 | 0.080 | 21 | 31663848 | missense variant | A/G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 1 | 1993 | 2012 | |||||||
|
0.851 | 0.080 | 21 | 31667320 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 1 | 1993 | 2012 | ||||||||
|
0.925 | 0.080 | 21 | 31659789 | missense variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 1 | 1993 | 2012 | ||||||||
|
0.807 | 0.120 | 21 | 31667271 | missense variant | T/C;G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 1 | 1993 | 2012 | |||||||
|
0.882 | 0.080 | 21 | 31666496 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 1 | 1993 | 2012 | |||||||
|
0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 1 | 1993 | 2012 | ||||||||
|
0.925 | 0.080 | 21 | 31667273 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.080 | 21 | 31668562 | missense variant | T/C | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 1993 | 2009 | |||||||
|
1.000 | 0.080 | 21 | 31668559 | missense variant | T/G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |