ABO, ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase, 28
N. diseases: 443; N. variants: 160
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 |
|
Cardiovascular Diseases | 0.830 | 1.000 | 3 | 2012 | 2019 | ||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
Cardiovascular Diseases | 0.820 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 4 | 2011 | 2016 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2011 | 2013 | ||||||||
|
0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
9 | 133267960 | intron variant | T/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133268030 | intron variant | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133274306 | intron variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133266804 | intron variant | G/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
9 | 133271249 | intron variant | A/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133257320 | intron variant | A/T | snv | 0.25 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 133261730 | intron variant | G/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 133264214 | intron variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 133258352 | intron variant | C/T | snv | 0.29 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 133258643 | intron variant | G/A | snv | 0.26 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 133259656 | intron variant | C/T | snv | 0.27 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 133259791 | intron variant | C/G | snv | 0.28 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 133259834 | missense variant | C/T | snv | 0.27 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 133276029 | upstream gene variant | C/A;G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 133260255 | intron variant | T/C | snv | 0.27 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 133260793 | intron variant | T/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |