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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 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 | |||||||
|
9 | 133257246 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
9 | 133267960 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 133268030 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 133274306 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 133271249 | intron variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
9 | 133256205 | missense variant | G/A;C | snv | 1.2E-05; 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 133273734 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.851 | 0.160 | 9 | 133262254 | intron variant | C/T | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
9 | 133257486 | synonymous variant | T/A;C;G | snv | 0.40 | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
9 | 133257230 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 133257138 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 133256963 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
9 | 133255928 | missense variant | C/A;G | snv | 4.1E-06; 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |