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 | 5 | 70951920 | splice acceptor variant | CTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2000 | 2008 | ||||||||
|
1.000 | 0.040 | 5 | 70951940 | splice acceptor variant | G/A | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 5 | 70951968 | missense variant | A/G | snv | 7.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 5 | 70946138 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 70946138 | missense variant | T/C | snv |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 70951938 | splice region variant | C/A;T | snv | 8.1E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 5 | 70951938 | splice region variant | C/A;T | snv | 8.1E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 5 | 70925180 | missense variant | G/A | snv | 8.2E-05 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 70925180 | missense variant | G/A | snv | 8.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 70925180 | missense variant | G/A | snv | 8.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 70951956 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 70942430 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 11 | 1995 | 2016 | ||||||||
|
1.000 | 0.080 | 5 | 70942490 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 11 | 1995 | 2016 | ||||||||
|
1.000 | 0.080 | 5 | 70951942 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 11 | 1995 | 2016 | ||||||||
|
0.925 | 0.080 | 5 | 70946157 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 8 | 1995 | 2011 | ||||||||
|
1.000 | 0.080 | 5 | 70938845 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 7 | 1997 | 2012 | ||||||||
|
0.882 | 0.080 | 5 | 70942416 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 7 | 1997 | 2012 | ||||||||
|
1.000 | 0.080 | 5 | 70942367 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1997 | 2007 | ||||||||
|
1.000 | 0.080 | 5 | 70938888 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1997 | 2007 | ||||||||
|
1.000 | 0.080 | 5 | 70946126 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1997 | 2007 | ||||||||
|
0.925 | 0.080 | 5 | 70951941 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 5 | 1997 | 2011 | |||||||
|
0.925 | 0.080 | 5 | 70946157 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.040 | 1.000 | 4 | 1997 | 2002 | ||||||||
|
0.925 | 0.080 | 5 | 70951941 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 4 | 1997 | 2004 | |||||||
|
0.925 | 0.080 | 5 | 70951939 | splice acceptor variant | A/C;G;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2008 | 2015 | |||||||
|
0.925 | 0.080 | 5 | 70944713 | stop gained | T/A | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 |