ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Summary
This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]
Known Variants105 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs188658949 | 9:136,126,153 | G/T | coding sequence variant | — |
| rs76700116 | 9:136,126,499 | A/C | coding sequence variant | — |
| rs7849280 | 9:136,126,636 | A/G | coding sequence variant | — |
| rs9411476 | 9:136,127,601 | G/A | coding sequence variant | — |
| rs112134200 | 9:136,127,689 | A/G | coding sequence variant | — |
| rs73660468 | 9:136,127,907 | G/A | coding sequence variant | — |
| rs10901252 | 9:136,128,000 | G/A | coding sequence variant | — |
| rs12554580 | 9:136,128,603 | T/C | coding sequence variant | — |
| rs12554339 | 9:136,128,737 | A/C | coding sequence variant | — |
| rs10793962 | 9:136,129,115 | A/G | coding sequence variant | — |
| rs8176759 | 9:136,129,647 | G/A | coding sequence variant | — |
| rs1137827 | 9:136,129,715 | C/T | coding sequence variant | — |
| rs4962116 | 9:136,129,716 | G/T | coding sequence variant | — |
| rs141472448 | 9:136,130,703 | G/A | coding sequence variant | — |
| rs187099314 | 9:136,130,741 | C/A | coding sequence variant | — |
| rs2118940061 | 9:136,131,129 | A/G | — | no classification for the single variant |
| rs8176749 | 9:136,131,188 | C/T | coding sequence variant | benign |
| rs2490918899 | 9:136,131,292 | C/T | — | likely benign |
| rs8176747 | 9:136,131,315 | C/G | coding sequence variant | association |
| rs41302905 | 9:136,131,316 | C/T | coding sequence variant | — |
| rs8176746 | 9:136,131,322 | G/T | missense variant | no classification for the single variant |
| rs8176744 | 9:136,131,350 | G/T | — | likely benign |
| rs8176743 | 9:136,131,415 | C/T | coding sequence variant | benign |
| rs55722397 | 9:136,131,418 | G/C | coding sequence variant | affects |
| rs8176741 | 9:136,131,461 | G/A | coding sequence variant | benign |
| rs8176740 | 9:136,131,472 | A/T | coding sequence variant | benign |
| rs55687199 | 9:136,131,589 | C/T | — | likely benign |
| rs7853989 | 9:136,131,592 | G/C | coding sequence variant | benign |
| rs1053878 | 9:136,131,651 | G/A | coding sequence variant | association |
| rs7873635 | 9:136,132,012 | T/C | upstream gene variant | — |
| rs8176731 | 9:136,132,350 | T/C | — | benign |
| rs2073823 | 9:136,132,516 | G/A | upstream gene variant | — |
| rs2073824 | 9:136,132,633 | A/G | upstream gene variant | benign |
| rs8176722 | 9:136,132,754 | C/A | upstream gene variant | — |
| rs8176720 | 9:136,132,873 | T/G | coding sequence variant | benign |
| rs8176719 | 9:136,132,908 | -/C | frameshift variant | — |
| rs512770 | 9:136,133,506 | A/T | coding sequence variant | benign |
| rs8176707 | 9:136,135,108 | T/G | — | benign |
| rs8176704 | 9:136,135,552 | G/A | upstream gene variant | — |
| rs574347 | 9:136,135,659 | C/T | upstream gene variant | — |
| rs688976 | 9:136,136,770 | A/A | — | benign |
| rs782760415 | 9:136,136,774 | G/T | — | benign |
| rs112565602 | 9:136,137,050 | G/A | intron variant | — |
| rs687621 | 9:136,137,065 | A/C | — | — |
| rs687289 | 9:136,137,106 | G/C | — | — |
| rs2073828 | 9:136,137,140 | G/A | intron variant | — |
| rs55876802 | 9:136,137,547 | C/A | coding sequence variant | — |
| rs1554758313 | 9:136,137,558 | G/T | — | benign |
| rs8176694 | 9:136,137,646 | T/C | intron variant | uncertain significance |
| rs8176766 | 9:136,138,484 | A/C | intron variant | — |
| rs8176688 | 9:136,138,583 | C/T | intron variant | — |
| rs8176686 | 9:136,138,776 | T/A | — | — |
| rs657152 | 9:136,139,265 | C/A | regulatory region variant | — |
| rs191325486 | 9:136,139,702 | G/A | intron variant | — |
| rs1633513 | 9:136,140,462 | C/T | intron variant | — |
| rs2519093 | 9:136,141,870 | C/T | intron variant | association |
| rs514659 | 9:136,142,203 | A/T | — | — |
| rs644234 | 9:136,142,217 | T/A | — | — |
| rs8176671 | 9:136,142,313 | A/C | intron variant | — |
| rs643434 | 9:136,142,355 | G/A | intron variant | — |
| rs148987354 | 9:136,142,465 | G/A | intron variant | — |
| rs543040 | 9:136,143,000 | A/G | — | — |
| rs544873 | 9:136,143,212 | G/A | intron variant | — |
| rs142956930 | 9:136,143,330 | A/G | intron variant | — |
| rs545971 | 9:136,143,372 | C/A | — | — |
| rs612169 | 9:136,143,442 | A/G | intron variant | — |
| rs8176668 | 9:136,144,059 | A/T | regulatory region variant | benign |
| rs597988 | 9:136,144,284 | T/A | intron variant | — |
| rs597974 | 9:136,144,297 | A/G | intron variant | — |
| rs576125 | 9:136,144,309 | G/A | intron variant | — |
| rs8176662 | 9:136,144,454 | A/G | intron variant | — |
| rs149899707 | 9:136,144,521 | C/G | — | — |
| rs2490441566 | 9:136,144,703 | G/T | — | affects |
| rs492488 | 9:136,144,960 | G/A | regulatory region variant | — |
| rs494242 | 9:136,145,118 | C/T | regulatory region variant | — |
| rs495203 | 9:136,145,240 | C/A | — | — |
| rs9411377 | 9:136,145,404 | C/A | — | — |
| rs587707823 | 9:136,145,409 | C/A | — | — |
| rs587611953 | 9:136,145,414 | C/A | — | — |
| rs13292932 | 9:136,145,419 | C/G | — | — |
| rs28850884 | 9:136,145,424 | A/C | — | — |
| rs582118 | 9:136,145,471 | A/C | — | — |
| rs582094 | 9:136,145,484 | A/T | intron variant | — |
| rs2769071 | 9:136,145,974 | A/G | intron variant | — |
| rs677355 | 9:136,146,046 | G/A | intron variant | — |
| rs676996 | 9:136,146,077 | T/A | — | — |
| rs676457 | 9:136,146,227 | A/C | — | — |
| rs79343853 | 9:136,146,310 | T/C | intron variant | — |
| rs527210 | 9:136,146,431 | C/T | intron variant | — |
| rs550057 | 9:136,146,597 | C/T | intron variant | — |
| rs144458168 | 9:136,147,539 | T/C | intron variant | — |
| rs581107 | 9:136,147,702 | C/T | intron variant | — |
| rs500498 | 9:136,148,647 | T/C | regulatory region variant | — |
| rs500499 | 9:136,148,648 | G/G | — | benign |
| rs8176645 | 9:136,149,098 | T/A | intron variant | — |
| rs8176761 | 9:136,149,152 | T/C | intron variant | — |
| rs505922 | 9:136,149,229 | T/C | regulatory region variant | — |
| rs507666 | 9:136,149,399 | G/A | regulatory region variant | association |
| rs630510 | 9:136,149,581 | A/C | — | — |
| rs115478735 | 9:136,149,711 | A/T | — | — |
Showing 100 of 105 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.