Table 1 Characterization of putative deleterious missense variants in ACE2
rsID | Position (hg19) | Ref | Alt | AA changea | Enrichedh | AF | Df | Sg | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Combined | African | Latino | Asianb | Europeanc | Europeand | Asiane | ||||||||
rs147311723 | 15582265 | G | A | Leu731Phe | N/A | 1.4 × 10−3 | 0.014 | 4.8 × 10−4 | 0 | 0 | 3.3 × 10−5 | 0 | 6 | N |
rs148771870 | 15607532 | C | T | Gly211Arg | N/A | 1.3 × 10−3 | 2.7 × 10−4 | 2.1 × 10−4 | 0 | 1.6 × 10−3 | 1.9 × 10−3 | 1.9 × 10−3 | 2 | Y |
rs191860450 | 15593829 | T | C | Ile468Val | N/A | 8.4 × 10−4 | 0 | 0 | 0.011 | 0 | 2.2 × 10−5 | 5.6 × 10−5 | 4 | Y |
rs149039346 | 15584416 | A | G | Ser692Pro | N/A | 5.6 × 10−4 | 5.8 × 10−3 | 3.6 × 10−5 | 0 | 0 | 2.2 × 10−5 | 5.3 × 10−5 | 4 | N |
rs138390800 | 15599392 | T | C | Lys341Arg | N/A | 4.0 × 10−4 | 3.9 × 10−3 | 1.8 × 10−4 | 0 | 0 | 0 | 0 | 2 | Y |
rs372272603 | 15607508 | G | A | Arg219Cys | N/A | 3.5 × 10−4 | 1.6 × 10−4 | 0 | 0 | 0 | 7.0 × 10−4 | 1.6 × 10−4 | 6 | Y |
rs73635825 | 15618980 | A | G | Ser19Pro | Y | 3.1 × 10−4 | 3.3 × 10−3 | 0 | 0 | 0 | 0 | 0 | 3 | Yh |
rs142443432 | 15607546 | T | C | Asp206Gly | N/A | 3.0 × 10−4 | 1.1 × 10−4 | 3.6 × 10−5 | 0 | 0 | 6.3 × 10−4 | 0 | 2 | Y |
rs751603885 | 15584401 | T | C | Arg697Gly | N/A | 2.5 × 10−4 | 0 | 0 | 0 | 0 | 0 | 2.4 × 10−3 | 4 | N |
rs373025684 | 15590348 | G | C | Ser547Cys | N/A | 2.1 × 10−4 | 0 | 1.4 × 10−4 | 0 | 5.4 × 10−5 | 3.9 × 10−4 | 0 | 6 | Y |
rs142984500 | 15596376 | T | C | His378Arg | Y | 8.8 × 10−5 | 0 | 0 | 0 | 0 | 1.9 × 10−4 | 0 | 6 | Yh |
rs759590772 | 15607507 | C | T | Arg219His | NA | 9.8 × 10−5 | 0 | 0 | 0 | 0 | 1.2 × 10−5 | 8.9 × 10−4 | 5 | Y |