ZBTB18, zinc finger and BTB domain containing 18, 10472
N. diseases: 57; N. variants: 15
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 | 244049564 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 1 | 244053916 | stop gained | C/G;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244053916 | stop gained | C/G;T | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 1 | 244054171 | stop gained | G/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244054357 | stop gained | C/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244054373 | frameshift variant | C/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244054717 | frameshift variant | AG/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 26 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins |
|
0.700 | 1.000 | 26 | 1997 | 2017 | ||||||||||
|
1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 26 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 244054957 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 26 | 1997 | 2017 | |||||||||
|
1.000 | 1 | 244054957 | stop gained | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244055075 | missense variant | T/C | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 1 | 244055156 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 26 | 1997 | 2017 | |||||||||
|
0.925 | 1 | 244055156 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 26 | 1997 | 2017 | |||||||||
|
0.925 | 1 | 244055156 | missense variant | A/G | snv |
|
0.700 | 1.000 | 26 | 1997 | 2017 | ||||||||||
|
0.925 | 1 | 244055156 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244055164 | missense variant | C/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244055165 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244055218 | missense variant | C/T | snv |
|
0.700 | 0 |