CTNNB1, catenin beta 1, 1499
N. diseases: 70; N. variants: 52
Source: CLINVAR ×
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 | 0.080 | 3 | 41233836 | frameshift variant | -/A | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 41227270 | stop gained | C/A;T | snv | 2.0E-05 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||
|
0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.810 | 1.000 | 1 | 2015 | 2016 | ||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.810 | 1.000 | 1 | 2015 | 2016 | ||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.820 | 1.000 | 1 | 2016 | 2018 |