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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.100 | 0.786 | 28 | 1997 | 2015 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.100 | 0.846 | 13 | 1994 | 2014 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.100 | 0.909 | 11 | 1996 | 2009 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.100 | 0.800 | 10 | 1995 | 2007 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.080 | 1.000 | 8 | 1999 | 2014 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.080 | 0.875 | 8 | 1997 | 2007 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.070 | 0.857 | 7 | 1997 | 2010 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Endocrine System Diseases | 0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.070 | 1.000 | 7 | 1997 | 2010 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.060 | 0.833 | 6 | 1997 | 2009 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.060 | 0.833 | 6 | 1997 | 2009 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.060 | 0.833 | 6 | 1999 | 2011 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.060 | 1.000 | 6 | 1999 | 2007 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.050 | 1.000 | 5 | 1999 | 2003 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.040 | 1.000 | 4 | 1996 | 2008 | |||||||
|
0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.040 | 1.000 | 4 | 1999 | 2007 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.030 | 0.333 | 3 | 2001 | 2011 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2004 | 2012 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2004 | 2011 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.030 | 0.667 | 3 | 2006 | 2013 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2003 | 2019 | |||||||
|
0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins |
|
Nervous System Diseases; Mental Disorders | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 |
|
Nervous System Diseases; Mental Disorders | 0.030 | 1.000 | 3 | 2006 | 2009 |