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. 2017 Jun 30;292(34):13970–13985. doi: 10.1074/jbc.M117.778134

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