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 | X | 154032226 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.720 | 1.000 | 21 | 1999 | 2018 | ||||||||
|
1.000 | 0.080 | X | 154031430 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.720 | 1.000 | 21 | 1999 | 2019 | ||||||||
|
0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.720 | 1.000 | 8 | 1999 | 2010 | ||||||||
|
0.882 | 0.080 | X | 154030903 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.720 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | X | 154031445 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | X | 154030798 | missense variant | G/A;C | snv | 3.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 21 | 1999 | 2017 | |||||||
|
0.925 | 0.120 | X | 154031356 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 20 | 1999 | 2017 | ||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.710 | 1.000 | 6 | 2000 | 2019 | ||||||||
|
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 | 0.710 | 1.000 | 6 | 2002 | 2016 | |||||||
|
1.000 | 0.080 | X | 154059995 | non coding transcript exon variant | A/C | snv | 0.17 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.710 | 0.500 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | X | 154030799 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 1 | 2012 | 2013 | ||||||||
|
0.807 | 0.080 | X | 154031374 | missense variant | G/C | snv | 5.5E-06 | 1.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 0 | 2009 | 2009 | ||||||
|
0.925 | 0.120 | X | 154031415 | stop gained | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 0 | 1999 | 1999 | ||||||||
|
1.000 | 0.080 | X | 154030643 | splice acceptor variant | TCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 0 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | X | 154030939 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 0 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | X | 154097618 | synonymous variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 0 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | X | 154031425 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154031365 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154031361 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154031346 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154031199 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154030924 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154030914 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | X | 154030666 | missense variant | G/A;C | snv | 5.8E-06; 7.5E-05; 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | |||||||
|
1.000 | 0.080 | X | 154030863 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 20 | 1999 | 2017 |