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 | 0.120 | 3 | 8745834 | missense variant | C/G | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2006 | 2007 | |||||||
|
3 | 8745821 | missense variant | G/C | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
3 | 8745821 | missense variant | G/C | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
3 | 8745788 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 12 | 1998 | 2006 | ||||||||
|
0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2004 | 2008 | ||||||||
|
0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2004 | 2019 | ||||||||
|
0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.120 | 3 | 8745701 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.820 | 1.000 | 4 | 2006 | 2018 | ||||||||
|
0.925 | 0.120 | 3 | 8745701 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 3 | 8745701 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 3 | 8745688 | missense variant | G/A;T | snv | 1.6E-04; 2.0E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2003 | 2010 | |||||||
|
0.851 | 0.200 | 3 | 8745688 | missense variant | G/A;T | snv | 1.6E-04; 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2003 | 2005 | |||||||
|
0.851 | 0.200 | 3 | 8745688 | missense variant | G/A;T | snv | 1.6E-04; 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 3 | 8745688 | missense variant | G/A;T | snv | 1.6E-04; 2.0E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 8745671 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 3 | 8745664 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2006 | 2007 | ||||||||
|
0.925 | 0.120 | 3 | 8745647 | missense variant | T/G | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2006 | 2007 | |||||||
|
0.925 | 0.120 | 3 | 8745647 | missense variant | T/G | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2013 | 2017 | |||||||
|
0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |