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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 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 | |||||||||||
|
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 | |||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
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 | |||||||
|
9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 133270005 | intron variant | A/-;AA;AAA;AAAAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
9 | 133257320 | intron variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133261730 | intron variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
9 | 133264214 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
9 | 133273232 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
9 | 133258352 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133258643 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
9 | 133267960 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
9 | 133259656 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133259791 | intron variant | C/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133259834 | missense variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133276029 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
9 | 133260255 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133260793 | intron variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
9 | 133260839 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
9 | 133260074 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |