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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.925 | 0.120 | 6 | 160716680 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.925 | 0.120 | 6 | 160714828 | synonymous variant | C/T | snv | 6.0E-04 | 2.2E-03 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.925 | 0.120 | 6 | 160714828 | synonymous variant | C/T | snv | 6.0E-04 | 2.2E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.925 | 0.120 | 6 | 160714828 | synonymous variant | C/T | snv | 6.0E-04 | 2.2E-03 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.120 | 6 | 160741375 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.827 | 0.080 | 6 | 160722576 | intron variant | T/C;G | snv | 0.21 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.080 | 6 | 160722576 | intron variant | T/C;G | snv | 0.21 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.160 | 6 | 160732495 | intron variant | T/C | snv | 0.21 |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.160 | 6 | 160706469 | missense variant | A/G | snv | 3.0E-03 | 2.8E-03 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1.000 | 0.160 | 6 | 160718432 | missense variant | G/C | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 1998 | 1998 |