Table 1.
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.