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 | 0.040 | 4 | 76169893 | missense variant | G/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.810 | 1.000 | 5 | 2008 | 2011 | |||||||
|
4 | 76208415 | intron variant | C/G | snv | 0.16 |
|
0.700 | 1.000 | 4 | 2015 | 2018 | ||||||||||
|
1.000 | 0.040 | 4 | 76176436 | splice donor variant | C/G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2009 | 2014 | ||||||||
|
1.000 | 0.040 | 4 | 76174276 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||||
|
1.000 | 0.040 | 4 | 76176471 | stop gained | GGTAA/- | delins | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||||
|
1.000 | 0.040 | 4 | 76163353 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||||
|
1.000 | 0.040 | 4 | 76163233 | frameshift variant | TGGATC/GGTGCATGCAT | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
1.000 | 0.040 | 4 | 76179596 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
4 | 76174965 | non coding transcript exon variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 76208415 | intron variant | C/G | snv | 0.16 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 4 | 76181016 | stop gained | G/A | snv | 8.0E-06 | 2.8E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.040 | 4 | 76181016 | stop gained | G/A | snv | 8.0E-06 | 2.8E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.040 | 4 | 76213464 | missense variant | C/T | snv | 1.5E-04 | 9.1E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 4 | 76166249 | splice donor variant | C/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 4 | 76179693 | frameshift variant | -/CT | delins | 8.0E-05 | 1.5E-04 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.040 | 4 | 76168478 | splice acceptor variant | T/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 4 | 76163365 | frameshift variant | C/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 4 | 76168400 | splice donor variant | -/A | delins | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 4 | 76161738 | stop gained | T/A;C | snv | 4.0E-05; 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 4 | 76176432 | splice region variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 4 | 76213433 | frameshift variant | G/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 4 | 76181081 | frameshift variant | T/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 4 | 76179707 | splice acceptor variant | T/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 4 | 76169963 | frameshift variant | -/A | delins | 1.2E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 |