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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.080 | 3 | 8745548 | missense variant | C/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 3 | 8745548 | missense variant | C/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 8745550 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 8745568 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
3 | 8745577 | missense variant | G/A | snv | 8.9E-03 | 3.5E-02 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 8745580 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2004 | 2017 | ||||||
|
1.000 | 0.120 | 3 | 8745580 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 8745597 | inframe deletion | CACCTTCAC/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 8745599 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 3 | 8745599 | missense variant | C/G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.120 | 3 | 8745601 | missense variant | A/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 12 | 1998 | 2006 | ||||||||
|
0.925 | 0.120 | 3 | 8745601 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 3 | 8745602 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2004 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 8745623 | stop gained | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 3 | 8745627 | missense variant | C/G | snv | 1.4E-03 | 1.6E-03 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.040 | 3 | 8745627 | missense variant | C/G | snv | 1.4E-03 | 1.6E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
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 |