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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 10807681 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 10807681 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 10748832 | intron variant | G/A | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
19 | 10830162 | missense variant | A/C | snv | 4.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
19 | 10732057 | intron variant | C/G | snv | 4.7E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
19 | 10794013 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 10794013 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 10817504 | intron variant | G/A | snv | 2.1E-03 | 2.4E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 19 | 10727810 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 19 | 10727810 | intron variant | G/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 10812273 | missense variant | A/C;G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 10823868 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 10823886 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 10819986 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.925 | 0.080 | 19 | 10812315 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 19 | 10820017 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.925 | 0.080 | 19 | 10793799 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 19 | 10797424 | missense variant | A/G | snv | 1.1E-04 | 1.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.080 | 19 | 10793799 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 19 | 10793799 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 19 | 10795378 | missense variant | T/G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 19 | 10795378 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |