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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.900 | 1.000 | 58 | 1999 | 2017 | ||||||||
|
0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.880 | 1.000 | 42 | 1999 | 2017 | ||||||||
|
0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.870 | 1.000 | 47 | 1999 | 2017 | ||||||||
|
0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.840 | 1.000 | 30 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | X | 154031427 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 27 | 1988 | 2017 | ||||||||
|
0.882 | 0.120 | X | 154031373 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 26 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154031364 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 22 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | X | 154030923 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 25 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | X | 154030911 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 25 | 1999 | 2017 | ||||||||
|
0.851 | 0.120 | X | 154031154 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | X | 154030864 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154032286 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2017 | ||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 10 | 2000 | 2007 | |||||||
|
0.925 | 0.200 | X | 154031418 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 10 | 2000 | 2007 | ||||||||
|
0.851 | 0.120 | X | 154031154 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 10 | 2000 | 2007 | ||||||||
|
0.925 | 0.080 | X | 154030864 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 10 | 2000 | 2007 | ||||||||
|
1.000 | 0.120 | X | 154036016 | intron variant | C/G | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | X | 154032556 | stop gained | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | X | 154032283 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | X | 154032282 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | X | 154032267 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.770 | 1.000 | 7 | 2005 | 2016 | ||||||||
|
0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.760 | 1.000 | 24 | 2000 | 2016 | |||||||
|
0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.740 | 1.000 | 42 | 1999 | 2014 | ||||||||
|
0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.730 | 1.000 | 20 | 1975 | 2013 |