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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 7 | 129209348 | missense variant | G/A;C | snv | 2.4E-05 |
|
Neoplasms | 0.700 | 1.000 | 3 | 2009 | 2015 | |||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.810 | 1.000 | 3 | 2014 | 2020 | ||||||||
|
0.925 | 0.040 | 7 | 129209348 | missense variant | G/A;C | snv | 2.4E-05 |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 7 | 129203569 | missense variant | C/T | snv | 4.1E-04 | 3.5E-04 |
|
Musculoskeletal Diseases | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 7 | 129203437 | missense variant | G/A;T | snv | 1.0E-04; 5.7E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 7 | 129203437 | missense variant | G/A;T | snv | 1.0E-04; 5.7E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 7 | 129203390 | missense variant | G/A | snv | 3.2E-05 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.200 | 7 | 129203390 | missense variant | G/A | snv | 3.2E-05 | 1.3E-04 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.200 | 7 | 129203390 | missense variant | G/A | snv | 3.2E-05 | 1.3E-04 |
|
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 | ||||||
|
1.000 | 0.080 | 7 | 129205241 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Infections | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.200 | 7 | 129210515 | missense variant | C/T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 7 | 129210515 | missense variant | C/T | snv | 2.0E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 7 | 129210515 | missense variant | C/T | snv | 2.0E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 7 | 129210515 | missense variant | C/T | snv | 2.0E-05 |
|
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 | |||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 129203401 | missense variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 7 | 129203401 | missense variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 |