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 | 156868568 | missense variant | T/C | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 5 | 1999 | 2016 | |||||||
|
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 | 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 | 0.080 | 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 | 156875639 | missense variant | G/A | snv | 4.5E-04 | 3.9E-04 |
|
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 | 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 | 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 | 156843858 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 156830120 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
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 | 156879203 | synonymous variant | C/T | snv | 0.58 | 0.54 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
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 | |||||||
|
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 |