| 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 | 1 | 204155078 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 1 | 204162117 | stop gained | G/A | snv | 4.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 1 | 204162135 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 1 | 204160648 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 1 | 204161355 | missense variant | C/T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 1 | 204156313 | synonymous variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 1999 | 2003 | |||||||
|
1.000 | 0.040 | 1 | 204156313 | synonymous variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
1.000 | 0.120 | 1 | 204159399 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 1 | 204159421 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.040 | 1 | 204160543 | intron variant | A/C;G;T | snv | 0.25; 2.0E-05; 1.2E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.160 | 1 | 204166247 | missense variant | A/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 1 | 204162017 | missense variant | A/T | snv | 8.0E-06 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.925 | 0.080 | 1 | 204162017 | missense variant | A/T | snv | 8.0E-06 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 204163510 | intron variant | T/A | snv | 0.32 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1 | 204161105 | intron variant | C/A | snv | 5.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 204161105 | intron variant | C/A | snv | 5.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 204161105 | intron variant | C/A | snv | 5.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 204161105 | intron variant | C/A | snv | 5.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |