Intronic Variants of the Angiotensin-Converting Enzyme 2 Gene Modulate Plasma ACE2 Levels and Possibly Confer Protection against Severe COVID-19

Table 2

Frequency of different variants of the ACE2 gene observed in the WES dataset and different databases.

rs ID	Chr	Start	End	Ref	Alt	Allele frequencies (MAF) (%)
						WES data	1000GP (phase 3)	gnomAD v3.1.2
.	chrX	15562065	15562065	A	G	3.5	N/A	N/A
rs11340646	chrX	15573562	15573562	T	—	44.8	67	56.1
rs769765211	chrX	15573562	15573563	TT	—	6.9	0.1	0.1
rs775397699	chrX	15573562	15573564	TTT	—	10.3	0.008	N/A
rs200260858	chrX	15575575	15575576	TG	—	3.5	0.7	1.810^-3
rs113691336	chrX	15578020	15578020	—	ATAAG	86.2	83	73
rs4646140	chrX	15587729	15587729	C	T	10.3	6	3.6
rs776459296	chrX	15589463	15589463	—	T	31	6	0.3
rs971249	chrX	15589527	15589527	T	C	86.2	80.5	69.2
rs2285666	chrX	15592225	15592225	C	T	51.7	35	23.8
rs540248863	chrX	15571886	15571886	T	G	3.5	0.5	0.1

1000 gp = 1000 Genomes Project; gnomAD = Genome Aggregation Database.