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 | 0.120 | 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 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
9 | 129813558 | 3 prime UTR variant | C/- | del | 0.14 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
9 | 129813558 | 3 prime UTR variant | C/- | del | 0.14 |
|
Pathological Conditions, Signs and Symptoms; 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 |
|
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 | |||||||
|
0.790 | 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 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
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 | 129814009 | missense variant | G/A | snv | 8.0E-06; 1.2E-05 | 3.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
9 | 129814009 | missense variant | G/A | snv | 8.0E-06; 1.2E-05 | 3.5E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 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 | |||||||
|
0.882 | 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 | ||||||
|
0.882 | 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 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2014 |