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 | 156879176 | frameshift variant | -/T | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156874963 | frameshift variant | -/TTGT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
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 | 156866908 | splice acceptor variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 | 156842164 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1.000 | 0.080 | 1 | 156868651 | splice region variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156876427 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 156864760 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 2.1E-05 |
|
Neoplasms | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 1 | 156864394 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 1 | 156864394 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 156860959 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
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 | 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 | 156881562 | missense variant | C/T | snv | 8.2E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 14 | 1996 | 2017 | ||||||
|
1.000 | 0.080 | 1 | 156879261 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 14 | 1996 | 2017 | ||||||
|
1.000 | 0.080 | 1 | 156881532 | missense variant | C/T | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 3 | 2001 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 156881499 | missense variant | C/T | snv | 1.4E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
1.000 | 1 | 156868557 | synonymous variant | C/T | snv | 1.8E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.080 | 1 | 156880056 | missense variant | C/T | snv | 6.0E-05 | 7.6E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 1 | 156880056 | missense variant | C/T | snv | 6.0E-05 | 7.6E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.827 | 0.120 | 1 | 156879126 | missense variant | C/T | snv | 4.2E-02 | 3.7E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.827 | 0.120 | 1 | 156879126 | missense variant | C/T | snv | 4.2E-02 | 3.7E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.827 | 0.120 | 1 | 156879126 | missense variant | C/T | snv | 4.2E-02 | 3.7E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 |