Table 1.
The list of ACE2 gene variant analysis from the whole‐exome sequencing data (only the variants ≥0.003 are listed)
| dbSNP‐ID | c.DNA | Allele frequency | Coding consequence | Amino acid change | g1000 | GnomAD | GLOBAL | EUR |
|---|---|---|---|---|---|---|---|---|
| rs971249 | c.584‐71A>G | 0.581 | Intronic | 0.803 | 0.695 | 0.644 | 0.609 | |
| rs113691336, rs4646158 | c.1297 + 68_1297 + 69insCTTAT | 0.455 | Intronic | 0.834 | 0.729 | 0.629 | ||
| rs4646174 | c.1896 + 147G>C | 0.404 | Intronic | 0.683 | 0.621 | 0.683 | 0.649 | |
| rs2285666 | c.439 + 4G>A | 0.326 | Intronic, splice donor | 0.350 | 0.273 | 0.350 | 0.230 | |
| rs11340646, rs769765211, rs775397699 | c.1443‐97del | 0.128 | Intronic | 0.0016 | — | |||
| rs4646156 | c.1071‐605T>A | 0.078 | Intronic | 0.802 | 0.699 | 0.803 | 0.651 | |
| rs4646143 | c.900 + 1879A>G | 0.072 | Intronic | 0.826 | 0.727 | 0.828 | 0.650 | |
| rs397822493 | c.187‐1538dup | 0.070 | Intronic | 0.835 | 0.732 | |||
| rs111691073 | c.1997 + 520_1997 + 527del | 0.060 | Intronic | 0.971 | 0.940 | |||
| rs35803318 | c.2247G>A | 0.060 | Coding sequence variant; synonymous | 0.020 | 0.038 | 0.020 | 0.050 | |
| rs4646152 | c.1070 + 1320T>C | 0.058 | Intronic | 0.832 | 0.729 | 0.832 | 0.651 | |
| rs879922 | c.1542‐361G>C | 0.056 | Intronic | 0.682 | 0.619 | 0.682 | 0.646 | |
| rs4240157 | c.1897‐1015G>A | 0.056 | Intronic | 0.682 | 0.617 | 0.682 | 0.641 | |
| rs397686765, rs398087648, rs4646131, rs869127567 | c.345 + 524delT | 0.053 | Intronic | 0.803 | 0.701 | |||
| rs233575 | c.211‐625C>T | 0.051 | Intronic | 0.863 | 0.771 | 0.863 | 0.664 | |
| rs1514279 | c.802 + 101C>T | 0.048 | Intronic | 0.803 | 0.698 | 0.803 | 0.646 | |
| rs2158083 | c.584‐807G>A | 0.047 | Intronic | 0.808 | 0.703 | 0.808 | 0.648 | |
| rs2048683 | c.584‐920A>C | 0.046 | Intronic | 0.803 | 0.698 | 0.803 | 0.648 | |
| rs4646153 | c.1071‐1397G>A | 0.044 | Intronic | 0.831 | 0.730 | 0.832 | 0.649 | |
| rs2316904 | c.901‐1178G>A | 0.042 | Intronic | 0.623 | 0.827 | 0.828 | 0.650 | |
| rs146122606, rs57823828, rs754565978 | c.346‐1077_346‐1070dupCCTTCCTT | 0.041 | Intronic | NA | — | |||
| rs776459296, rs759499720, rs752472046 | c.584‐8dupA | 0.041 | Intronic | NA | — | — | ||
| rs4646124 | c.186 + 2053A>G | 0.037 | Intronic | 0.803 | 0.699 | 0.804 | 0.651 | |
| rs1978124 | c.186 + 786A>G | 0.035 | Intronic | 0.794 | 0.625 | 0.795 | 0.529 | |
| rs4646127 | c.187‐2327T>C | 0.035 | Intronic | 0.809 | 0.692 | 0.809 | 0.651 | |
| rs138373349, rs4646148 | c.901‐380_901‐379insTTAA | 0.035 | Intronic | NA | — | — | ||
| rs11394305 | c.901‐1367dup | 0.034 | Intronic | |||||
| rs2074192 | c.2115‐449G>A | 0.033 | Intronic | 0.363 | 0.424 | 0.364 | 0.426 | |
| rs200672831 | c.1443‐187G>C | 0.032 | Intronic | NA | — | — | ||
| rs2048684 | c.901‐702T>G | 0.032 | Intronic | 0.832 | 0.729 | 0.832 | 0.651 | |
| rs11374008 | c.1298‐936dup | 0.032 | Intronic | NA | — | — | ||
| rs34481900 | c.186 + 2745dup | 0.031 | Intronic | 0.809 | ||||
| rs1514280 | c.1897‐499T>C | 0.030 | Intronic | 0.802 | 0.719 | 0.802 | 0.655 | |
| rs233574 | c.2115‐268A>G | 0.029 | Intronic | 0.842 | 0.748 | 0.842 | 0.670 | |
| rs4646120 | c.186 + 1113C>T | 0.028 | Intronic | 0.735 | 0.567 | 0.735 | 0.527 | |
| rs4646142 | c.900 + 534C>G | 0.028 | Intronic | 0.357 | 0.235 | 0.359 | 0.238 | |
| rs199544436 | c.1443‐168G>C | 0.027 | Intronic | — | 0.0001 | — | ||
| rs2023802 | c.187‐1019C>T | 0.027 | Intronic | 0.804 | 0.702 | 0.804 | 0.651 | |
| rs4646147 | c.901‐1231A>T | 0.024 | Intronic | 0.828 | 0.724 | 0.828 | 0.651 | |
| rs2316903 | c.901‐1761C>A | 0.019 | Intronic | 0.827 | 0.724 | 0.828 | 0.651 | |
| rs2106809 | c.186 + 788T>C | 0.016 | Intronic | 0.316 | 0.191 | 0.316 | 0.247 | |
| rs41303171 | c.2158A>G | 0.016 | Coding sequence missense variant | p. Asn720Asp | 0.0045 | 0.016 | 0.023 | 0.018 |
| rs714205 | c.2114 + 472G>C | 0.015 | Intronic | 0.308 | 0.184 | 0.308 | 0.205 | |
| rs757066 | c.583 + 884G>A | 0.015 | Intronic | 0.856 | 0.750 | 0.856 | 0.649 | |
| rs892503408 | c.1443‐200C>T | 0.007 | Intronic | NA | — | — | ||
| rs1132186 | c.2309 + 6768T>G | 0.006 | Intronic | 0.688 | 0.629 | 0.688 | 0.649 | |
| rs73195521 | c.346‐143A>T | 0.006 | Intronic | 0.0013 | 0.00303 | 0.001 | 0.005 | |
| rs73195520 | c.439 + 24G>A | 0.006 | Intronic | 0.0013 | 0.00307 | 0.001 | 0.005 | |
| rs542683073 | c.440‐133G>A | 0.005 | Intronic | — | 0.00014 | — | ||
| ‐ | c.1297 + 70_1297 + 71insTATGA | 0.004 | NA | — | — | |||
| rs146598386 | c.187‐1124C>A | 0.004 | Intronic | 0.0026 | 0.01235 | 0.003 | 0.009 | |
| rs755489152 | c.2115‐274del | 0.004 | Intronic | NA | — | — | ||
| rs4830542 | c.2309 + 5541G>T | 0.004 | Intronic | 0.684 | 0.623 | 0.684 | 0.649 | |
| rs10551988 | c.2310‐701_2310‐696del | 0.004 | Intronic | No data | ||||
| rs780782488 | c.584‐19T>A | 0.004 | Intronic | — | 0.000223 | — | ||
| rs34161673 | c.697‐161del | 0.004 | Intronic | 0.0019 | 0.00638 | 0.002 | 0.007 | |
| rs41297301 | c.900 + 90C>A | 0.004 | Intronic | 0.0037 | 0.01453 | 0.004 | 0.012 | |
| rs4646188 | c.901‐1830T>C | 0.004 | Intronic | 0.0437 | 0.10405 | 0.044 | 0.131 | |
| rs1043432251 | c.901‐1890del | 0.004 | Intronic | NA | — | — | ||
| rs934301151 | c.901‐72C>T | 0.004 | Intronic | — | 0.00037 | 0.00034 | — | |
| — | c.*812C>A | 0.003 | NA | — | — | |||
| rs200260858 | c.1442 + 90_1442 + 91delCA | 0.003 | Intronic | 0.0074 | — | 0.007 | 0.004 | |
| — | c.186 + 73G>A | 0.003 | NA | — | — | |||
| — | c.186 + 74G>A | 0.003 | NA | — | — | |||
| — | c.186 + 75G>A | 0.003 | NA | — | — | |||
| — | c.186 + 79T>A | 0.003 | NA | — | — | |||
| rs187959864 | c.186 + 80C>A | 0.003 | Intronic | 0.0003 | 0.00009 | 0.000264 | 0.001 | |
| rs777042582 | c.2114 + 44CAA | 0.003 | Intronic | — | 0.00014 | 0.00013 | 0.00028 | |
| rs4646140 | c.802 + 24G>A | 0.003 | Intronic | 0.0601 | 0.0336 | 0.060 | 0.001 | |
| rs4646116 | c.77A>G | 0.003 | Coding sequence missense variant | p. Lys26Arg | 0.002 | 0.003 | 0.000 | 0.010 |