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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      
  1. *The ACE2 reference sequences used are NM_021804.3 and NG_012575.1