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 | 15 | 58563549 | missense variant | C/T | snv | 2.9E-03 | 2.9E-03 |
|
Nutritional and Metabolic Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.040 | 15 | 58545750 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 15 | 58560960 | missense variant | T/C | snv | 1.6E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1991 | 1991 | ||||||
|
0.925 | 0.080 | 15 | 58548387 | missense variant | C/T | snv | 1.0E-03 | 7.5E-04 |
|
Nutritional and Metabolic Diseases | 0.710 | 1.000 | 3 | 1991 | 1998 | ||||||
|
1.000 | 0.040 | 15 | 58560880 | missense variant | C/A;T | snv | 0.97 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.882 | 0.120 | 15 | 58541794 | missense variant | G/A;T | snv | 7.1E-02; 8.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.925 | 0.080 | 15 | 58548387 | missense variant | C/T | snv | 1.0E-03 | 7.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
0.882 | 0.120 | 15 | 58541794 | missense variant | G/A;T | snv | 7.1E-02; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.040 | 15 | 58548572 | missense variant | G/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.040 | 15 | 58548572 | missense variant | G/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.040 | 15 | 58548572 | missense variant | G/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
15 | 58563545 | missense variant | A/G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
15 | 58450532 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
15 | 58450532 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 15 | 58545839 | synonymous variant | C/A;G | snv | 1.2E-05; 0.43 |
|
Nervous System Diseases; Mental Disorders | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 15 | 58545839 | synonymous variant | C/A;G | snv | 1.2E-05; 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
15 | 58450219 | intron variant | G/A | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
15 | 58434545 | intron variant | G/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 3 | 2012 | 2012 | ||||||||
|
0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
15 | 58445142 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2009 | 2012 | |||||||||||
|
15 | 58432593 | intron variant | T/A | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2012 | 2012 |