Table 1.

ACE2 polymorphisms.

ACE2		MAF (%) in populations with different ancestry					Potential functional effect
Variant ID	Minor allele	AMER (MXL)	AFR (YRI)	EUR (GBR)	EAS (CHB)	Amino acid position and change	Y	N
Coding sequence
rs35803318C/T	T	8.3	0	4.4	0	Val749Val		X
rs4646179A/G	G	0	12.2	0	0	Asn690Asn		X
Promoter and 5′ near the gene
rs113009615AAAAAA/AAAAAAA (INDEL)	A	2.1	17.7	0.7	0			X
rs7885856G/A	A	2.1a	7.3	0	0		Both alleles can create binding sites for AP2ALPHA, BCL6, CEBP, and ETS.
rs112621533T/C	C	0	8.5	0.7c	0			X
rs11336754ATTT/ATT (INDEL)	ATT	4.2	14.6	0.7	2.5			X
rs760084155G/A	A	18.7	0	0	0			X
rs765471058A/T	T	17.7	0	0	0			X
rs9698134C/T	T	2.1a	17.7b	0.7c	0		Allele C can create a binding site for HIC1
rs9698150G/C	C	2.1a	17.7b	0.7c	0		Both alleles can create binding sites for BRCA, DBP, ETF, MYB, RFX, and WT1
rs112593415A/G	G	2.1a	17.7b	0.7c	0			X
rs184697926A/C	C	0	0	0	11.9			X
rs142049267A/G	G	0	4.3	0	0			X

ACE2; Angiotensin I Converting Enzyme 2, MAF; Minor allele frequency, AMER; Americans, AFR; Africans, EUR; Europeans, EAS; East Asia, MXL; Mexicans from Los Angeles, YRI; Yoruba in Ibadan, Nigeria, CHB; Han Chinese in Beijing, China, GBR; British in England and Scotland, Y; Yes, N; No, INDEL; Insertion/Deletion, LD; Linkage disequilibrium. CCDS; consensus coding sequence.

ACE2 is located on chromosome Xp22.2. Five transcripts have been reported for ACE2, two of them synthesize the CCDS of 805 amino acids. The first transcript consists of 18 exons and 17 introns, 18 exons encode this protein, transcript length; 3339 bps. The second transcript consists of 19 exons and 18 introns, the CCDS consist of 18 exons, transcript length; 3507 bps.

^aVariants in high LD or tagSNPs between them in an American population.

^bVariants in high LD or tagSNPs between them in an African population.

^cVariants in high LD or tagSNPs between them in a European population.