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 | 0.120 | 16 | 23380725 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.820 | 1.000 | 8 | 1995 | 2017 | ||||||||
|
1.000 | 0.120 | 16 | 23380736 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2005 | ||||||||
|
1.000 | 0.120 | 16 | 23380727 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2005 | ||||||||
|
1.000 | 0.040 | 16 | 23367879 | missense variant | C/T | snv |
|
Respiratory Tract Diseases | 0.800 | 1.000 | 3 | 2005 | 2009 | ||||||||
|
1.000 | 0.040 | 16 | 23380493 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Respiratory Tract Diseases | 0.800 | 1.000 | 3 | 2005 | 2009 | ||||||
|
1.000 | 0.040 | 16 | 23371836 | missense variant | C/A | snv | 4.4E-05 | 1.3E-04 |
|
Respiratory Tract Diseases | 0.800 | 1.000 | 3 | 2005 | 2009 | ||||||
|
1.000 | 0.040 | 16 | 23367942 | missense variant | A/G | snv | 8.0E-06 |
|
Respiratory Tract Diseases | 0.800 | 1.000 | 3 | 2005 | 2009 | |||||||
|
1.000 | 0.040 | 16 | 23348844 | missense variant | C/G | snv | 4.8E-03 | 4.6E-03 |
|
Respiratory Tract Diseases | 0.800 | 1.000 | 3 | 2005 | 2009 | ||||||
|
1.000 | 0.120 | 16 | 23380731 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.710 | 1.000 | 7 | 1995 | 2008 | ||||||||
|
0.882 | 0.160 | 16 | 23380574 | stop gained | C/G;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 23380574 | stop gained | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 23380574 | stop gained | C/G;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 23380574 | stop gained | C/G;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 23380574 | stop gained | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 16 | 23380574 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 16 | 23348708 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 1996 | 1996 | ||||||
|
1.000 | 0.120 | 16 | 23371805 | stop gained | C/A;G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 16 | 23371460 | missense variant | G/A | snv | 6.0E-05 | 7.7E-05 |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 16 | 23367959 | missense variant | G/A;T | snv | 7.2E-05 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 23371350 | stop gained | C/A;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 16 | 23380566 | missense variant | G/A | snv | 1.5E-04 | 1.5E-04 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||||
|
1.000 | 0.040 | 16 | 23380659 | missense variant | C/G;T | snv | 8.1E-06; 2.1E-03 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2004 | 2004 | |||||||
|
1.000 | 0.120 | 16 | 23380566 | missense variant | G/A | snv | 1.5E-04 | 1.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 16 | 23380659 | missense variant | C/G;T | snv | 8.1E-06; 2.1E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
16 | 23377219 | missense variant | G/T | snv | 9.8E-03 | 3.9E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |