Table 5.
Examination of selected Coriell samples predicted by Ray et al. (2019) to contain novel CYP2D6 haplotypes.
| Sample ID | Genotype | Haplotype ID and SNPs present/absent per Ray et al., 2019 (ref) | Allele linked to “enhancer” SNP | |
|---|---|---|---|---|
| HG00190 | *1/*2 | H1c | rs5758550, no rs16947, rs5758550, rs35742686 (*3) | *2 |
| HG01067 | *2/*4 | H1b | rs5758550, no rs16947, rs5758550, rs3892097 (*4), rs1065852 (*10) | *2 |
| NA19672 | *1/*68+*2 | H2c | rs5758550, rs16947, rs1065852 (*10) | *2 |
| NA19338 | *2/*5 | H3d | rs16947, no rs5758550, rs5030656 (*9) | *2 |
| HG00651 | *5/*36+*10 | H1d | rs5758550, no rs16947, rs1065852 (*10) | *5 |
Extensive genotyping was performed on these Coriell DNA sample to confirm/refute the haplotypes predicted by Ray et al. (2019). Our genotyping and DropPhased2D6 results do not confirm the predicted novel haplotypes.