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 | 0.080 | 3 | 139185143 | intron variant | G/T | snv | 9.4E-02 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 3 | 139350183 | missense variant | G/A | snv | 8.4E-05 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 0 | |||||||||
|
0.851 | 0.160 | 3 | 139350279 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 |
|
0.800 | 0 | |||||||||||
|
3 | 139348309 | stop gained | T/G | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 5 | 2007 | 2017 | ||||||||
|
3 | 139348309 | stop gained | T/G | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2007 | 2017 | ||||||||
|
0.807 | 0.080 | 3 | 139313491 | intron variant | T/C | snv | 0.12 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 3 | 139313491 | intron variant | T/C | snv | 0.12 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 3 | 139313491 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.807 | 0.080 | 3 | 139313491 | intron variant | T/C | snv | 0.12 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 3 | 139313491 | intron variant | T/C | snv | 0.12 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 3 | 139313491 | intron variant | T/C | snv | 0.12 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
1.000 | 0.040 | 3 | 139130268 | intron variant | -/GATTCAGAATCCA | delins | 0.30 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 139171721 | intron variant | G/A;C | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 139171721 | intron variant | G/A;C | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 139310834 | intron variant | G/A | snv | 9.2E-03 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 3 | 139287822 | intron variant | C/G | snv | 0.20 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.160 | 3 | 139350279 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.160 | 3 | 139350279 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 3 | 139185143 | intron variant | G/T | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.080 | 3 | 139313491 | intron variant | T/C | snv | 0.12 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 139279109 | intron variant | A/G | snv | 0.24 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 139350318 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 3 | 139348224 | missense variant | G/A;T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 3 | 139326219 | intron variant | T/G | snv | 0.90 |
|
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 3 | 139332068 | intron variant | G/A | snv | 0.88 |
|
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |