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. 2021 Mar 8;12:653489. doi: 10.3389/fimmu.2021.653489

Table 1.

Genotype-phenotype associations of genes involved in viral entry of SARS-CoV-2.

Chromosome Gene ID Transcript ID Gene SNP MAF Position Exon(E)/intron(I) Observed association
Trait type Trait Population References
X ENSG00000130234 ENST00000427411.1 ACE2 rs2074192 0.36 15564667 I17–18 O Left ventricular hypertrophy (LVH) in females Chinese Han (13)
O T2DM Uygur (14)
O Diabetic retinopathy within female T2DM patients Chinese (15)
rs4646176 0.07 15569381 I15–16 O Essential hypertension (EH) in females Northeastern Chinese Han (16)
rs4646155 0.06 15579386 I9–10 O Essential hypertension (EH) in females Northeastern Chinese Han (16)
rs2106809 0.32 15599938 I2–3 O Left ventricular hypertrophy (LVH) in females Chinese Han (13)
O Lone atrial fibrillation Chinese (17)
rs1514283 0.11 15564624 I17–18 O Essential hypertension (EH) in females Northeastern Chinese Han (16)
rs2285666 0.35 15592225 I4–5 O Essential hypertension (EH) in females Northeastern Chinese Han (16)
O Cardiovascular death in females European (18)
rs879922 0.32 15572684 I12–13 O Essential hypertension (EH) in females Northeastern Chinese Han (16)
O T2DM Uygur (14)
rs1978124 0.21 15599940 I2–3 O T2DM Uygur (14)
rs2048683 0.20 15590376 I5–6 O T2DM Uygur (14)
rs233575 0.14 15564843 I17–18 O T2DM Uygur (14)
rs4240157 0.32 15568841 I15–16 O T2DM Uygur (14)
rs4646156 0.20 15578920 I9–10 O T2DM Uygur (14)
rs4646188 0.04 15583220 I8–9 O T2DM Uygur (14)
rs6632677 0.02 15596749 I2–3 O Structural atrial fibrillation in males Chinese Han (19)
I/A Dilated cardiomyopathy (DCM) North Indian (20)
rs714205 0.31 15565781 I17–18 O Diabetic retinopathy within female T2DM patients Chinese (15)
rs4646174 0.32 15570148 I15–16 O Blood pressure responses after potassium supplementation in males Chinese Han (21)
21 ENSG00000184012 ENST00000332149.10 TMPRSS2 rs12329760 0.26 41480570 E6 N TMPRSS2-ERG fusion in patients with prostate cancer Indian (22)
N TMPRSS2-ERG fusion by translocation, multiple copies of the gene fusion American (23)
rs2070788 0.40 41470061 I11–12 I Severe H1N1 infection, H7N9 infection Chinese (24)
rs383510 0.40 41486440 I5–6 I Severe H1N1 infection, H7N9 infection Chinese (24)
15 ENSG00000140564 ENST00000268171.8 FURIN rs4702 0.35 90883330 E16 O Systolic and diastolic blood pressure Finnish (25)
O Schizophrenia American (26)
rs17514846 0.47 90873320 I1–2 O Coronary artery disease N.A. (metaanalyis) (27)
O Metabolic syndrome Japanese (28)
O Longevity, parents' attained age European (29)
11 ENSG00000162341 ENST00000294309.8 TPCN2 rs1551305 0.34 69087765 I24–25 O T2DM Chinese (30)
rs35264875 0.10 69078931 E16 O Hair color (blond vs. brown) European (31)
rs3829241 0.18 69087895 E25 O Hair color (blond vs. brown) European (31)
9 ENSG00000135047 ENST00000343150.10 CTSL rs3118869 0.43 87725948 5' upstream O Essential hypertension (EH) Uygur, Kazak and Han Chinese (32)
O Hypertension, systolic blood pressure, diastolic blood pressure American (33)

Regarding locus specifications genome build GRCh38.p13 was used and for minor allele frequency (MAF) of the second most frequent allele in 1,000 Genomes Phase three combined population is demonstrated, where available. SNP, single nucleotide polymorphism; MAF, minor allele frequency; T2DM, type 2 diabetes mellitus. A, autoimmune; I, infectious; N, neoplastic; O, other.