Table 3.
Reason | Change | SNVs and Affected Alleles |
---|---|---|
Standardization | Intronic SNVs were removed | 12917A>T (*1D, *4C); 14593C>G (*1C); 15582C>T (*1C, *13B, *15A+B); 15837C>T (*28); 17897C>T (*18); 18273G>A (*11B, *12, *13A+B, *14, *15B, *17A+B, *18, *19, *20, *21, *27, *28, *38); 18627G>A (*18, *28); 21563C>T (*9, *13A+B, *19, *38). rs4803419 was significantly associated with increased plasma efavirenz exposure in GWAS studies; however, this SNV was not consistently genotyped and thus, it remains unknown which haplotypes carry this SNV |
Standardization | Retired | After intronic SNVs were removed, the *1C, *13B and *15B haplotypes were identical to *1B (*1.002), *13A (*13.002) and *15A (*15.001) and thus were retired. |
Other | Upstream SNVs were removed | -1456T>C and -750T>C were removed from *28 because it remained uncertain whether these SNVs are indeed on this haplotype (76) and personal communication with author) |