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 | 0.080 | 1 | 156876496 | missense variant | G/A;C | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 14 | 1996 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 156880036 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 156873858 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 156876526 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 156879336 | missense variant | G/T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1996 | 2017 | |||||||
|
1.000 | 1 | 156868246 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
1.000 | 1 | 156868246 | missense variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
1.000 | 1 | 156881446 | intron variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
1.000 | 1 | 156881446 | intron variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
1.000 | 1 | 156881535 | missense variant | G/A;C | snv | 3.5E-05 |
|
0.020 | 1.000 | 2 | 2006 | 2008 | |||||||||
|
1.000 | 0.080 | 1 | 156879365 | splice region variant | A/C | snv | 4.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 1996 | 2009 | |||||||
|
1.000 | 0.080 | 1 | 156874568 | splice acceptor variant | CAG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 156842109 | missense variant | T/C;G | snv | 8.8E-05; 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 1 | 156876514 | missense variant | C/G;T | snv | 6.4E-05; 2.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 156876418 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 156874570 | splice acceptor variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2001 | 2001 |