Table 1 Allelic counts (variants vs WT alleles) and allelic frequencies of ACE2* variants found in our Italian population of SARS-CoV-2-positive patients. The data of the same variants are reported also for the Italian control population and in Europeans (GnomAD database)
From: Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients
Nr. | dbSNP | Position (Hg19) | Coding | Protein | Genotype | Variant type | Allelic count | Allelic count EUR (GnomAD) | Allelic count Italian controls | Allelic frequency | Allelic frequency EUR (GnomAD) | Allelic frequency Italian controls | p value COVID-19 vs EUR (GnomAD) | p value COVID-19 vs Italian controls |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
(n) | ||||||||||||||
1 | rs140312271 | chrX:15588426 | c.1888G>C | p.(Asp630His) | Het (1) | Missense variant | 1 | 3 | 1/181 | 3/81442 | p = 0.0088 | / | ||
vs | vs | Not found | = 0.0055 | = 3.68x10-5 | NOT FOUND | |||||||||
180 | 81439 | |||||||||||||
2 | rs2285666 | chrX:15610348 | c.439+4G>A | Hom (4) | Splice region variant | 32 | 17240 | 338 | 32/181 | 17240/86164 | 338/1500 | |||
Het (9) | vs | vs | vs | = 0.1768 | = 0.2001 | = 0.2253 | p = 0.43 | p = 0.14 | ||||||
Hem (15) | 149 | 68924 | 1162 | |||||||||||
3 | rs41303171 | chrX:15582298 | c.2158A>G | p.(Asn720Asp) | Het (1) | Missense variant | 2 | 2195 | 15 | 2/181 | 2195/87066 | 15/1500 | ||
Hem (1) | vs | vs | vs | = 0.011 | = 0.0251 | = 0.01 | p = 0.34 | p = 0.70 | ||||||
179 | 84871 | 1485 | ||||||||||||
Cumulative frequencies (variants 1, 2, 3) | 35 | 19438 | 353 | 35/181 | 19438/84890 | 353/1500 | ||||||||
The allelic count of Europeans wild-type alleles (GnomAD database) in cumulative frequencies was calculated as the average of the number of wild-type alleles of the three genetic variants, since the 3 variants has been genotyped in a number of individuals slightly different | vs | vs | vs | = 0.1934 | = 0.2289 | = 0.2353 | p = 0.86 | p = 0.21 | ||||||
146 | 78411 | 1147 | ||||||||||||