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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 89223683 | splice donor variant | C/G;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 10 | 89225168 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 10 | 89245776 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 89215944 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 89222509 | splice donor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 89225111 | stop gained | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 89247536 | splice donor variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 89222510 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 89223710 | stop gained | C/A | snv | 4.0E-06 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 10 | 89228277 | frameshift variant | -/GG | ins | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 10 | 89228230 | frameshift variant | G/- | del | 2.0E-05 | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 10 | 89225172 | frameshift variant | -/A | delins | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 10 | 89228375 | stop gained | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 89228209 | stop gained | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 10 | 89229352 | intron variant | T/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
10 | 89251701 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 10 | 89243662 | intron variant | A/C | snv | 0.38 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
10 | 89243047 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 10 | 89228199 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 |