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 | 0.040 | 18 | 51041256 | intron variant | C/G | snv | 0.32 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.820 | 1.000 | 4 | 2011 | 2020 | |||||||
|
0.882 | 0.400 | 18 | 51078294 | missense variant | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.710 | 1.000 | 3 | 2014 | 2019 | |||||||
|
1.000 | 0.320 | 18 | 51078308 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.925 | 0.360 | 18 | 51078307 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.882 | 0.480 | 18 | 51067189 | splice donor variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.851 | 0.480 | 18 | 51067121 | frameshift variant | CAGA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 18 | 51067036 | missense variant | G/A;C;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 18 | 51067036 | missense variant | G/A;C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
18 | 51084461 | 3 prime UTR variant | A/C;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 18 | 51047229 | synonymous variant | A/C | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.360 | 18 | 51078307 | missense variant | T/C | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |