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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 133253159 | non coding transcript exon variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
9 | 133258308 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133258352 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133258323 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133262722 | intron variant | T/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133259961 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133259791 | intron variant | C/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133259081 | intron variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133259603 | intron variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133259656 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133260255 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133260074 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133259834 | missense variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133257791 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133258643 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133257647 | intron variant | G/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133256916 | intron variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133257320 | intron variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133256085 | missense variant | A/T | snv | 0.25 | 0.25 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
9 | 133257230 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133257138 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 |