Table 1.
Occurrence of CHGA promoter SNPs in Indian population
NM_001275.3 was used as the reference sequence. The frequencies of occurrence of the nine variants identified in ∼1.2 kb region of CHGA promoter are indicated along with their dbSNP numbers, minor allele and genotypic frequencies. Genotypic frequencies have been indicated in % of the population.
| dbSNP No. | HGVS description | Promoter position | MAF in Indian population (n = 769) | Genotypic frequency in Indian population (%) (n = 769) |
|---|---|---|---|---|
| rs9658628 | NC_000014.9:g.92922041G>A | G − 1106A | 0.151 | 26.6 |
| rs9658629 | NC_000014.9:g.92922129A>T | A − 1018T | 0.217 | 36.9 |
| rs9658630 | NC_000014.9:g.92922133C>T | C − 1014T | 0.204 | 38.2 |
| rs9658631 | NC_000014.9:g.92922159G>T | T − 988G | 0.203 | 38.2 |
| rs9658634 | NC_000014.9:g.92922685A>G | G − 462A | 0.201 | 37.7 |
| rs9658635 | NC_000014.9:g.92922732T>C | T − 415C | 0.345 | 56.6 |
| rs7159323 | NC_000014.9:g.92923058A>C | C − 89A | 0.202 | 37.8 |
| rs9658638 | NC_000014.9:g.92923090C>T | C − 57T | 0.213 | 36.7 |
| rs550617040 | NC_000014.9:g.92922634G>A | G − 513A | 0.003 | 0.5 |