Table 1.
Lead and transcribed, proxy SNPs selected for allelic expression analysis.
| Lead SNP | Transcribed SNP | Gene | Functional annotation | r2 (D′) | Technology |
|---|---|---|---|---|---|
| rs14235 | rs14235 | BCKDK | Synonymous variant | 1 (1) | TaqMan |
| rs14235 | rs749671 | ZNF646 | Synonymous variant | 0.8 (0.9) | TaqMan |
| rs199347 | rs199355 | GPNMB | Synonymous variant | 0.93 (0.98) | TaqMan |
| rs823118 | rs708723 | RAB7L1 | 3′-UTR | 0.95 (0.98) | TaqMan |
| rs823118 | rs951366 | NUCKS1 | 3′-UTR | 0.72 (-0.98) | KASP |
| rs1474055 | rs76179989 | STK39 | 5′-UTR | 0.94 (0.99) | TaqMan |
| rs8118008 | rs58241213 | LZTS3 | 5′-UTR | 0.77 (0.89) | KASP |
| rs10799596 | rs4649383 | SIPA1L2 | Synonymous variant | 0.64 (-0.99) | KASP |
| rs11158026 | rs28481699 | WDHD1 | 3′-UTR | 0.71 (0.86) | TaqMan |
| rs12637471 | rs2270968 | MCCC1 | Missense variant | 0.71 (− 1) | TaqMan |
| rs34311866 | rs34311866 | TMEM175 | Missense variant | 1 (1) | TaqMan |
| rs34884217 | rs34884217 | TMEM175 | Missense variant | 1 (1) | TaqMan |
| rs35749011 | rs2230288 | GBA | Missense variant | 0.69 (0.83) | KASP |
SNP single nucleotide polymorphism, 3′UTR three prime untranslated region, KASP Kompetitive Allele Specific PCR.