ADA2, adenosine deaminase 2, 51816
N. diseases: 165; N. variants: 22
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 | 0.080 | 22 | 17209538 | missense variant | C/A;G | snv | 4.8E-05; 6.0E-05 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 22 | 17207287 | missense variant | G/T | snv |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 22 | 17207277 | missense variant | G/C | snv | 1.6E-05 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 22 | 17191773 | missense variant | C/G | snv |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 22 | 17207107 | missense variant | C/G;T | snv | 4.0E-06; 4.7E-04 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.710 | 1.000 | 4 | 2014 | 2016 | |||||||
|
1.000 | 0.080 | 22 | 17188449 | splice acceptor variant | T/C | snv | 1.2E-04 | 1.7E-04 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||||
|
1.000 | 0.080 | 22 | 17209539 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05; 1.1E-04 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2014 | 2018 | |||||||
|
1.000 | 0.080 | 22 | 17181904 | missense variant | T/C | snv | 8.0E-05 | 7.0E-05 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||||
|
1.000 | 0.080 | 22 | 17203564 | missense variant | G/A | snv | 3.6E-05 | 3.5E-05 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.120 | 22 | 17188342 | missense variant | T/C | snv | 8.0E-06 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 22 | 17181993 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 22 | 17209534 | frameshift variant | C/-;CC | delins |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 0 |