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 | 6 | 7542003 | missense variant | G/A | snv | 1.6E-03 | 1.1E-03 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.040 | 6 | 7542003 | missense variant | G/A | snv | 1.6E-03 | 1.1E-03 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.040 | 6 | 7542003 | missense variant | G/A | snv | 1.6E-03 | 1.1E-03 |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 6 | 7553941 | intron variant | A/C;G | snv |
|
Respiratory Tract Diseases; Occupational Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 7553941 | intron variant | A/C;G | snv |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
6 | 7554606 | intron variant | A/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 6 | 7555752 | frameshift variant | -/AC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 7555761 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 7555773 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 7555773 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 6 | 7555815 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2010 | 2014 | ||||||
|
0.925 | 0.120 | 6 | 7555815 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2010 | 2014 | ||||||
|
1.000 | 0.080 | 6 | 7555820 | frameshift variant | T/- | del |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 7555820 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
6 | 7558085 | intron variant | T/C | snv | 0.20 | 0.21 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 6 | 7558171 | stop gained | GT/AA | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 6 | 7558171 | stop gained | GT/AA | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 6 | 7558186 | missense variant | A/G | snv | 6.4E-05 | 2.8E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.882 | 0.080 | 6 | 7558186 | missense variant | A/G | snv | 6.4E-05 | 2.8E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.882 | 0.080 | 6 | 7558186 | missense variant | A/G | snv | 6.4E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.080 | 6 | 7559267 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2013 | 2017 | |||||||
|
0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 |