Table 1.
Summary of population allele frequencies of host protein genetic variants related to ACE2 protein expression.
| Rs ID | Ref. Allele | Variant | Function Class (a.a. Change) |
Global | African | Asian | European | American | Other | Potential Functional Effect | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs112171234 | T | G | Intron | 0.058 | 0.2047 | 0 | 0.00076 | 0.0245 | 0.025 | Higher expression | [22] |
| rs4646127 | A | G | Intron | 0.75103 | 0.8009 | 0.9965 | 0.63994 | 0.767 | 0.701 | Higher expression | [22] |
| rs4830974 | G | A | 5′ distal regions (CLTRN intron) † | 0.65138 | 0.73245 | 0.9396 | 0.50745 | 0.713 | 0.564 | Higher expression | [22] |
| rs6632704 | C | A | 5′ distal regions (CLTRN intron) † | 0.58884 | 0.5088 | 0.9415 | 0.50677 | 0.699 | 0.535 | Higher expression | [22] |
| rs2158082 | G | A | 5′ distal regions (CLTRN intron) † | 0.72834 | 0.95155 | 0.9955 | 0.50595 | 0.746 | 0.586 | Higher expression | [22] |
| rs1996225 | C | T | 5′ distal regions (CA5B intron) † | 0.51673 | 0.57974 | 0.74372 | 0.41528 | 0.60129 | 0.4926 | Higher expression | [22] |
| rs5936029 | C | T | 5′ distal regions (CA5B intron) † | 0.70741 | 0.88315 | 0.9875 | 0.50442 | 0.726 | 0.587 | Higher expression | [22] |
| rs4830983 | A | C | 5′ distal regions (CA5B intron) † | 0.72881 | 0.95195 | 0.9885 | 0.51156 | 0.746 | 0.585 | Higher expression | [22] |
| rs5936011 | C | T | 5′ distal regions (CA5B intron) † | 0.70679 | 0.88175 | 0.9875 | 0.50893 | 0.734 | 0.574 | Higher expression | [22] |
| rs4060 | C | A | 5′ distal regions (CA5B intron) † | 0.63257 | 0.6688 | 0.9395 | 0.50713 | 0.708 | 0.548 | Higher expression | [22] |
| rs6629110 | T | C | 5′ distal regions (Intergene region) † | 0.57021 | 0.43585 | 0.9575 | 0.50413 | 0.6875 | 0.526 | Higher expression | [22] |
| rs143695310 | T | A | 5′ distal regions (Intergene region) † | 0.0174 | 0.0028 | 0 | 0.03528 | 0.022 | 0.034 | Higher expression | [22] |
| rs4646112 | C | T | Promoter | 0.01921 | 0.06575 | 0 | 0.00012 | 0.013 | 0.009 | Not characterized | - |
| rs4646113 | G | A | Promoter | 0.02078 | 0.07485 | 0 | 0.00058 | 0.0055 | 0.013 | Not characterized | - |
| rs4646114 | C | T | Promoter | 0.01959 | 0.0667 | 0 | 0.00012 | 0.013 | 0.009 | Not characterized | - |
| rs111572878 | T | C | Promoter | 0.05531 | 0.20065 | 0 | 0.00073 | 0.0155 | 0.023 | Not characterized | - |
| rs113208650 | C | T | Promoter | 0.02839 | 0.1031 | 0 | 0.00065 | 0.0055 | 0.014 | Not characterized | - |
| rs185721534 | A | G | Promoter | 0.02512 | 0.0905 | 0 | 0.00012 | 0.009 | 0.009 | Not characterized | - |
| rs113208650 | C | T | Promoter | 0.02839 | 0.1031 | 0 | 0.00065 | 0.0055 | 0.014 | Not characterized | - |
| rs113009615 | A | delA | Promoter | 0.05618 | 0.20125 | 0 | 0.00077 | 0.0165 | 0.023 | Not characterized | - |
† Variant location is defined as relative to ACE2 gene loci. Promoter region of ACE2 is defined as ~2 kb upstream of start codon and selected allele frequencies more than 0.01. Allele frequencies obtained from 1000 Genomes Project, Exome Aggregation Consortium, and Genome Aggregation Database on dbSNP on the National Center for Biotechnology Information (NCBI) website (https://www.ncbi.nlm.nih.gov/snp/).