| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 11749887 | intron variant | G/A | snv | 0.54 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 8 | 11712527 | intron variant | G/T | snv | 0.14 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
8 | 11748855 | intron variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 11755236 | intron variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 11757212 | intron variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 11757260 | intron variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 11759731 | 3 prime UTR variant | A/T | snv | 0.35 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
8 | 11750261 | intron variant | G/A | snv | 5.3E-03 | 5.4E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
8 | 11754991 | intron variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 11756909 | non coding transcript exon variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.120 | 8 | 11753991 | intron variant | C/G | snv | 0.34 |
|
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
8 | 11756964 | missense variant | G/A | snv | 2.4E-05 | 7.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
8 | 11755333 | intron variant | G/A | snv | 9.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
8 | 11748803 | intron variant | T/C | snv | 0.80 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.080 | 8 | 11708799 | missense variant | C/T | snv | 7.3E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.807 | 0.080 | 8 | 11708799 | missense variant | C/T | snv | 7.3E-05 | 4.2E-05 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||
|
8 | 11759643 | 3 prime UTR variant | T/C | snv | 2.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 8 | 11708411 | missense variant | G/T | snv | 3.6E-03 | 2.0E-03 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||
|
8 | 11758186 | intron variant | A/G | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
8 | 11759327 | 3 prime UTR variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.080 | 8 | 11754872 | intron variant | T/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 11749060 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 8 | 11755064 | missense variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 11756666 | non coding transcript exon variant | G/T | snv | 0.37 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |