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1 National Clinical Research Centre for Metabolic Diseases, State Key Laboratory of Medical Genomics, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 200025 Shanghai, China.
1 National Clinical Research Centre for Metabolic Diseases, State Key Laboratory of Medical Genomics, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 200025 Shanghai, China.
Conflict of interestThe authors declare that they have no conflict of interest.
Figures
Fig. 1. The coding-region variants and eQTL…
Fig. 1. The coding-region variants and eQTL variants for ACE2 in East Asian and other…
Fig. 1. The coding-region variants and eQTL variants for ACE2 in East Asian and other populations.
a Schematics of 32 coding variants in ACE2 identified in the ChinaMAP and 1KGP databases. Yellow stars indicate the nonsense variants; dots indicate the missense variants. The number of samples with hotspot variants was marked. b The distribution of hotspot missense mutations of ACE2 in different populations. The colors indicate different populations. c The distribution and the allele frequencies of representative eQTL variants for ACE2 in different populations. Pie charts depict the allele frequencies of an intron variant of ACE2 (rs4646127) in the world. Orange color denotes the frequency of alteration allele, and blue color denotes the reference allele. The allele frequencies of 15 eQTLs for ACE2 gene are shown in tables. The color gradient from blue to red indicates the increasing of allele frequencies. The allele frequencies of INDEL variant rs200781818 were annotated by the gnomAD database. EAS, East Asian; EUR, European; AFR, African; SAS, South Asian; AMR, Ad Mixed American.
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