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 | 14 | 53950222 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 53950282 | missense variant | A/G | snv | 7.0E-06 |
|
Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 14 | 53950399 | missense variant | C/A;T | snv | 8.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 14 | 53950403 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 14 | 53950453 | missense variant | C/T | snv | 3.0E-04 | 9.1E-05 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.080 | 14 | 53950508 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.080 | 14 | 53950508 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.080 | 14 | 53950508 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.080 | 14 | 53950508 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 14 | 53950774 | missense variant | C/T | snv | 1.8E-04 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 14 | 53950783 | missense variant | C/T | snv | 4.8E-05 | 7.0E-06 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.160 | 14 | 53950809 | missense variant | G/A;C | snv | 1.2E-04; 1.2E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 14 | 53950809 | missense variant | G/A;C | snv | 1.2E-04; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |