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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 2 | 2008 | 2011 | ||||||
|
0.882 | 0.080 | 9 | 129818752 | missense variant | A/T | snv | 4.8E-05 | 1.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 12 | 1997 | 2016 | ||||||
|
1.000 | 0.080 | 9 | 129814062 | inframe deletion | CTC/- | delins | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 6 | 1997 | 2014 | |||||||
|
1.000 | 0.080 | 9 | 129814062 | inframe deletion | CTC/- | delins | 4.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 1997 | 1998 | |||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 9 | 129818752 | missense variant | A/T | snv | 4.8E-05 | 1.4E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 9 | 129814109 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 |
|
Nervous System Diseases | 0.030 | 1.000 | 3 | 2008 | 2014 | ||||||
|
0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.030 | 1.000 | 3 | 2008 | 2014 | ||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||||
|
0.827 | 0.040 | 9 | 129818622 | missense variant | C/G;T | snv | 0.13; 4.0E-06 |
|
Nervous System Diseases | 0.020 | 0.500 | 2 | 2013 | 2017 | |||||||
|
0.827 | 0.040 | 9 | 129818622 | missense variant | C/G;T | snv | 0.13; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.020 | 0.500 | 2 | 2013 | 2017 | |||||||
|
0.827 | 0.040 | 9 | 129818622 | missense variant | C/G;T | snv | 0.13; 4.0E-06 |
|
Nervous System Diseases | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||||
|
0.882 | 0.080 | 9 | 129818752 | missense variant | A/T | snv | 4.8E-05 | 1.4E-04 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||||
|
0.882 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 |
|
Nervous System Diseases | 0.020 | 0.500 | 2 | 2015 | 2017 | |||||||
|
0.882 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.020 | 0.500 | 2 | 2015 | 2017 | |||||||
|
0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
9 | 129818877 | missense variant | G/A;C | snv | 3.0E-04; 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |