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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.810 | 1.000 | 6 | 2001 | 2016 | |||||||
|
11 | 46721697 | intron variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
Cardiovascular Diseases | 0.730 | 1.000 | 8 | 2012 | 2019 | |||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.720 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.700 | 1.000 | 14 | 1986 | 2013 | ||||||||
|
0.925 | 0.080 | 11 | 46726563 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | |||||||
|
0.925 | 0.080 | 11 | 46728746 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||
|
0.925 | 0.080 | 11 | 46728138 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||||
|
0.925 | 0.080 | 11 | 46739341 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||||
|
0.925 | 0.080 | 11 | 46728004 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 46728157 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 46725897 | missense variant | G/A | snv | 1.1E-03 | 1.4E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||
|
1.000 | 0.080 | 11 | 46726564 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | |||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1998 | 2009 | |||||||
|
11 | 46721697 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
1.000 | 0.080 | 11 | 46739206 | intron variant | G/A | snv | 0.38 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
Respiratory Tract Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
11 | 46719945 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 46719945 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 46724708 | intron variant | G/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 46724708 | intron variant | G/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.882 | 0.160 | 11 | 46723453 | missense variant | C/G;T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 46726112 | synonymous variant | C/T | snv | 8.6E-03 | 6.9E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 11 | 46733838 | intron variant | G/C | snv | 6.5E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 |