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 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
Digestive System Diseases | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv |
|
0.800 | 1.000 | 4 | 2013 | 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 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
9 | 133268030 | intron variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.800 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||
|
0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 |
|
0.800 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
9 | 133266804 | intron variant | G/T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 |
|
Infections | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 |
|
Infections | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.740 | 1.000 | 6 | 2009 | 2018 |