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 | 1 | 239908624 | frameshift variant | GCCTGAGGAGGA/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1 | 239622120 | intron variant | A/C;G | snv | 0.75 |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2018 | 2020 | |||||||||
|
1.000 | 0.040 | 1 | 239737706 | intron variant | G/C | snv | 0.40 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 1 | 239835413 | intron variant | A/G;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 239835413 | intron variant | A/G;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 1 | 239806797 | intron variant | A/G | snv | 0.30 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 1 | 239806797 | intron variant | A/G | snv | 0.30 |
|
Nervous System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 1 | 239634406 | intron variant | G/A | snv | 8.5E-04 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 239648090 | intron variant | A/C | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 239648090 | intron variant | A/C | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 239443989 | intron variant | G/A | snv | 3.6E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.120 | 1 | 239676807 | intron variant | C/T | snv | 0.33 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 239529929 | intron variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 239694224 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 239694224 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 1 | 239907303 | intron variant | T/C | snv | 0.23 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 1 | 239907303 | intron variant | T/C | snv | 0.23 |
|
Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 1 | 239900521 | intron variant | T/G | snv | 0.44 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.080 | 1 | 239900521 | intron variant | T/G | snv | 0.44 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1 | 239882608 | intron variant | A/G | snv | 0.49 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1 | 239553545 | intron variant | T/C | snv | 5.6E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 1 | 239907544 | synonymous variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 239536529 | intron variant | C/T | snv | 2.6E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |