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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
9 | 133253728 | non coding transcript exon variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 133274295 | intron variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 133271018 | intron variant | -/GACAA;GACAAGACAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 133255469 | 3 prime UTR variant | CTGT/- | delins | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
9 | 133266030 | intron variant | AA/-;A;AAA;AAAA;AAAAA;AAAAAA;AAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 133269548 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 9 | 133271182 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
9 | 133270004 | intron variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 133263363 | intron variant | CACCACTACGCC/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.120 | 9 | 133270797 | intron variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
9 | 133274294 | intron variant | C/- | del |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 9 | 133266772 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.160 | 9 | 133262254 | intron variant | C/T | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
9 | 133255928 | missense variant | C/A;G | snv | 4.1E-06; 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 133269992 | intron variant | A/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 133270015 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |