Table 2.
Proxies (LD r2 > 0.9) for MHC region index variants.
| Phenotype | Index variant | Proxies | |
|---|---|---|---|
| Residues^ | Haplotypes | ||
| ADA positive | AA_DRB1_120_32657518_N | DRB1_96, DRB1_112, DRB1_166, DRB1_180 | HLA_DRB1_0407 |
| AA_DQB1_75_32740612* | DQB1_66, DQB1_67, DQB1_71, DQB1_74 | N/A | |
| rs3093664 | N/A | N/A | |
| ADA max titer | rs7756741 | DRB1_9, DRB1_11, DRB1_13 | N/A |
| rs3763313 | N/A | N/A | |
| ADA max titer top 10% | AA_DQB1_71_32740624_KD* | DQB1_66, DQB1_67, DQB1_74, DQB1_75 | N/A |
*Same LD cluster. ^Residues affected by non-synonymous proxies.