POGZ, pogo transposable element derived with ZNF domain, 23126
N. diseases: 117; N. variants: 68
Source: ALL
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 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
1.000 | 1 | 151406046 | stop gained | G/A | snv |
|
0.700 | 1.000 | 13 | 1999 | 2017 | ||||||||||
|
1.000 | 1 | 151406151 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 13 | 1999 | 2017 | ||||||||||
|
1.000 | 1 | 151406322 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 13 | 1999 | 2017 | ||||||||||
|
0.925 | 0.160 | 1 | 151406100 | stop gained | G/A | snv |
|
0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 151412348 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 151412327 | missense variant | T/C | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||||||
|
1.000 | 1 | 151406151 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
1.000 | 1 | 151406322 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 |