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 | 22 | 50526393 | inframe insertion | -/CCGTCGTCCAGCGCCGCG | delins |
|
0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
1.000 | 22 | 50525819 | inframe deletion | AATGGC/- | del |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526103 | inframe deletion | CCAGCG/- | delins | 1.2E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 22 | 50527716 | start lost | A/C | snv |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||||
|
1.000 | 22 | 50526479 | splice region variant | CGGG/- | delins | 1.4E-02 | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 22 | 50526142 | splice acceptor variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 1999 | 2000 | ||||||||||
|
1.000 | 22 | 50526143 | splice acceptor variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50525919 | splice acceptor variant | C/A;T | snv | 9.2E-06 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 22 | 50526317 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 22 | 50525787 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 22 | 50527210 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
1.000 | 22 | 50526720 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
1.000 | 22 | 50525908 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50525873 | frameshift variant | CTGAGCGCGGGGCCGTCCCG/- | delins |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
1.000 | 22 | 50526386 | frameshift variant | AGGGCCGAGC/TT | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50525867 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||||
|
1.000 | 22 | 50526089 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
22 | 50524395 | frameshift variant | -/TGAGTCACTGCTGCATGCT | ins | 5.8E-04; 4.2E-06 | 8.9E-04 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 22 | 50525910 | frameshift variant | -/G | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 22 | 50525898 | frameshift variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 22 | 50525808 | frameshift variant | -/G | delins |
|
0.700 | 0 |