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 | 0.040 | 17 | 37259427 | missense variant | C/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 17 | 37161868 | synonymous variant | T/C | snv | 8.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
17 | 37232521 | intron variant | A/G | snv | 0.65 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
17 | 37111115 | intron variant | A/G | snv | 0.54 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 17 | 37242036 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.120 | 17 | 37242036 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.080 | 17 | 37258316 | missense variant | A/G | snv | 4.0E-06 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 17 | 37258316 | missense variant | A/G | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
17 | 37252940 | synonymous variant | C/T | snv | 0.18 | 0.12 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 17 | 37294135 | intron variant | A/G;T | snv |
|
Infections | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 17 | 37274293 | missense variant | C/T | snv | 2.3E-04 | 9.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
0.925 | 0.080 | 17 | 37284932 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
0.925 | 0.080 | 17 | 37284932 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
0.925 | 0.080 | 17 | 37284932 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
1.000 | 0.040 | 17 | 37130209 | missense variant | G/A | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 17 | 37149965 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.080 | 17 | 37248015 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
17 | 37162308 | intron variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |