Table 2.
Location | Nucleotide change* |
dbSNP reference no. |
Observations in present study (n=57) | Caucasian VAF2 |
African American VAF2 |
Global VAF† |
||||
---|---|---|---|---|---|---|---|---|---|---|
Homozygote reference |
Heterozygote variant |
Homozygote variant |
VAF | HWE (p) | ||||||
Promoter | c.−286C>T | rs3093030 | 54 | 3 | 0 | 0.042 | 0.838 | 0.361 | 0.143 | 0.320 |
Intron 1 | c.394+7G>A | rs5030384 | 55 | 2 | 0 | 0.017 | 0.896 | 0.000 | 0.000 | 0.004 |
Nucleotide substitutions are shown relative to the reference sequence (NG_007728.1). Nucleotide positions are defined using the first nucleotide of the coding sequence (CDs) of NM_001544.5 isoform 1 as nucleotide position 1
Global VAF from 1000Genome, TOPMed (nhlbiwgs.org) and gnomAD (http://gnomad.broadinstitute.org/) databases
VAF - variant allele frequency, HWE – Hardy-Weinberg equilibrium