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 | 12 | 49026420 | synonymous variant | G/A;C | snv | 1.6E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
12 | 49050951 | missense variant | A/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
12 | 49050951 | missense variant | A/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.120 | 12 | 49054970 | missense variant | G/A | snv | 1.2E-05 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 12 | 49022591 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
1.000 | 12 | 49022591 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49030285 | frameshift variant | -/GTGCCCTT | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49030285 | frameshift variant | -/GTGCCCTT | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49031293 | frameshift variant | TT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
1.000 | 12 | 49031293 | frameshift variant | TT/- | del |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
12 | 49032761 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49033147 | frameshift variant | -/AGCCTGTGTCC | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49033147 | frameshift variant | -/AGCCTGTGTCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
1.000 | 12 | 49044766 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 12 | 49044766 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
1.000 | 12 | 49046358 | stop gained | G/C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
1.000 | 12 | 49046358 | stop gained | G/C;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||
|
0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||
|
0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv |
|
0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||
|
0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||
|
0.925 | 0.120 | 12 | 49031255 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||
|
0.925 | 0.120 | 12 | 49031255 | stop gained | G/A | snv |
|
0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
1.000 | 12 | 49026431 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||||||
|
1.000 | 12 | 49026431 | missense variant | G/A | snv |
|
0.700 | 1.000 | 25 | 1988 | 2017 |