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. 2022 May 30;5(10):e202201396. doi: 10.26508/lsa.202201396

Table 5.

Genes, single-nucleotide polymorphism (SNPs) identifiers, maximum allele frequencies in Iberians and Americans, and the impact of the reviewed and included variants.

Gene SNPs (rs) MAF IBS MAF AMR Variant impact References
ABCB1 rs1045642 0.46 (A) 0.43 (A) Synonymous variant 17
rs1128503 0.38 (A) 0.40 (A) Synonymous variant 17
rs2032582 0.41 (A) 0.37 (A) Missense variant 17
rs2032582 0.02 (T) 0.06 (T) Missense variant 17
ABO rs657152 0.37 (A) 0.30 (A) Intron variant 18
ACE rs4291 0.36 (T) 0.28 (T) Regulatory region variant 19
rs1799752 Not available Not available Intron variant 20
rs4343 0.44 (A) 0.39 (G) Synonymous variant 7
ACE2 rs143695310 0.04 (A) 0.03 (A) Intergenic variant 21
rs2106809 0.28 (G) 0.32 (G) Intron variant 22
rs1978124 0.43 (T) 0.29 (T) Intron variant 23
rs5936029 0.47 (C) 0.29 (C) Intron variant 21
rs1996225 0.47 (T) 0.45 (C) Intron variant 21
rs4646156 0.34 (A) 0.25 (A) Intron variant 7
rs2285666 0.25 (T) 0.34 (T) Splice region variant 24
rs2074192 0.40 (T) 0.40 (T) Intron variant 7
rs35803318 0.10 (T) 0.07 (T) Synonymous variant 25
rs4830542 0.35 (C) 0.28 (C) Intergenic variant 7
rs4646116 0.01 (C) <0.01 (C) Missense variant 26
rs4646188 0.14 (G) 0.03 (G) Intron variant 27
rs41303171 0.03 (C) <0.01 (C) Missense variant 21
ADAM17 rs55790676 0.24 (T) 0.13 (T) 5′ UTR variant 28
rs12692386 0.30 (G) 0.48 (G) 5′ UTR variant 29
AGT rs699 0.58 (G) 0.37 (A) Missense variant 30
ApoE rs7412 0.06 (T) 0.05 (T) Missense variant 31
rs429358 0.14 (C) 0.10 (C) Missense variant 31
CCL2 rs1024611 0.29 (G) 0.49 (G) Regulatory region variant 32
CCL5 rs2107538 0.12 (T) 0.23 (T) 5′ UTR variant 32
CD14 rs2569190 0.49 (G) 0.47 (G) Intron variant 32
CD147 rs8259 0.33 (A) 0.38 (A) 3′ UTR variant 33
CD69 rs11052877 0.36 (G) 0.34 (G) 3′ UTR variant 34
CLEC2D rs1560011 0.41 (A) 0.36 (A) Intron variant 34
CRP rs1130864 0.32 (A) 0.33 (A) 3′ UTR variant 35
CSF3 rs2227322 0.40 (G) 0.33 (G) 5′ UTR variant 36
CYP2C19 rs12248560 0.21 (T) 0.12 (T) Intron variant 17
rs4244285 0.15 (A) 0.10 (A) Synonymous variant 17
CYP2C9 rs1799853 0.14 (T) 0.10 (T) Missense variant 17
rs1057910 0.08 (C) 0.04 (C) Missense variant 17
CYP3A4 rs67666821 <0.01 (T x 6) <0.01 (T x 6) Frameshift variant 17
rs35599367 0.04 (A) 0.03 (A) Intron variant 17
CYP3A5 rs776746 0.08 (T) 0.20 (T) Splice acceptor variant 17
CYP4V2 rs13146272 0.40 (A) 0.47 (A) Missense variant 37
DPP4 rs56179129 0.01 (T) 0.01 (T) Missense variant 9, 38, and 39
rs116302758 0.01 (C) 0.016 (C) Splice acceptor variant 9, 38, and 39
rs17574 0.38(G) 0.17(G) Missense variant 9, 38, and 39
rs17848916 0.01(C) 0.03 (C) Intron variant 9, 38, and 39
ENOX1 rs9594987 0.48 (C) 0.49 (C) Intron variant 34
EPHX1 rs1051740 0.29 (C) 0.32 (C) Missense variant 40
F11 rs2289252 0.41 (T) 0.34 (T) Noncoding transcript exon variant 41
rs2036914 0.46 (T) 0.46 (T) Intron variant 42
FGG rs2066865 0.22 (A) 0.21 (A) Intergenic variant 43
G6PD rs1050828 <0.01 (T) 0.01 (T) Missense variant 17
rs1050829 0.01 (C) 0.03 (C) Missense variant 17
rs5030868 <0.01 (A) <0.01 (A) Missense variant 17
GC (DBP) rs7041 0.43 (A) 0.46 (A) Missense variant 44
rs4588 0.27 (T) 0.20 (T) Missense variant 44
HCP5 rs2395029 0.02 (G) 0.02 (G) Noncoding transcript exon variant 45
HO-1 rs2071746 0.42 (T) 0.31 (T) Intron variant 46
IFITM3 rs12252 0.03 (G) 0.18 (G) Splice region variant 47, 48, and 49
IFNL3 rs12979860 0.30 (T) 0.40 (T) Intron variant 17
IL10 rs1800896 0.41 (C) 0.30 (C) Intron variant 32
rs1800871 0.26 (A) 0.33 (A) 5′ UTR variant 32
IL13 rs1800925 0.18 (T) 0.23 (T) Noncoding transcript exon variant 50
IL17A rs3819025 0.07 (A) 0.34 (A) Intron variant 51 and 52 Preprint
rs2275913 0.07 (A) 0.21 (A) Intergenic variant 53
IL1B rs1143627 0.32 (G) 0.45 (A) 5′ UTR variant 50
rs1143634 0.20 (A) 0.13 (A) Synonymous variant 50
IL1RN rs315952 0.25 (C) 0.21 (C) Missense variant 9
IL6 rs1800795 0.35 (C) 0.18 (C) Intron variant 50, 54, 55, and 56
rs1800796 0.05 (C) 0.30 (C) Noncoding transcript exon variant 32, 54, and 57
rs1818879 0.33 (A) 0.48 (A) Regulatory region variant 58
IL6R rs2228145 0.40 (C) 0.46 (A) Missense variant 59
rs4329505 0.15 (C) 0.12 (C) Intron variant 17
rs7529229 0.37 (T) 0.41 (T) Intron variant 60
rs11265618 0.16 (T) 0.13 (T) Intron variant 17
rs12083537 0.20 (G) 0.16 (G) Intron variant 17
INFL4 rs11322783 0.30 (T) 0.40 (T) Frameshift variant 61
Intergenic region rs10108210 0.49 (C) 0.28 (C) Intron variant 62
rs703297 0.48 (T) 0.36 (C) Regulatory region variant 62
KCNMB1 rs703505 0.38 (G) 0.47 (G) Intron variant 62
LZTFL1 rs35044562 0.05 (G) 0.05 (G) Intron variant 63
MTHFR rs1801131 0.27 (G) 0.15 (G) Missense variant 64
rs1801133 0.44 (A) 0.47 (A) Missense variant 64
NFKB rs28362491 0.42 (-) 0.49 (-) Noncoding transcript exon variant 65
NLRP3 rs10754555 0.39 (G) 0.42 (G) Intron variant 66 and 67
PEAR1 rs12041331 0.15 (A) 0.20 (A) Intron variant 68
PTGS1 rs10306114 0.06 (G) 0.03 (G) Regulatory region variant 69
SLCO1B1 rs4149056 0.12 (C) 0.13 (C) Missense variant 17 and 70
TLR1 rs5743551 0.29 (C) 0.47 (C) Intron variant 32
TLR2 rs1898830 0.29 (G) 0.50 (G) Intron variant 32
rs7656411 0.36 (G) 0.24 (G) Regulatory region variant 32
rs11938228 0.33 (A) 0.49 (C) Intron variant 71
rs3804099 0.43 (C) 0.33 (C) Synonymous variant 72
rs1816702 0.08 (T) 0.16 (T) Noncoding transcript exon variant 73 and 74
TLR4 rs1927911 0.22 (A) 0.33 (A) Intron variant 32
TLR4 rs5030728 0.27 (A) 0.24 (A) Intron variant 75 and 76
TLR9 rs187084 0.43 (G) 0.43 (G) Intron variant 32
rs352162 0.45 (T) 0.46 (T) Noncoding transcript exon variant 32
TMPRSS2 rs55964536 0.50 (T) 0.29 (T) Intron variant 32
rs383510 0.50 (T) 0.38 (T) Intron variant 32, 77, and 78
rs464397 0.47 (T) 0.29 (T) Noncoding transcript exon variant 78
rs463727 0.49 (A) 0.27 (A) Intergenic variant 32
rs713400 0.12 (T) 0.11 (T) 5′ UTR variant 79
rs8134378 0.09 (A) 0.05 (A) Intron variant 80
rs469390 0.36 (G) 0.45 (A) Missense variant 78
rs734056 0.47 (C) 0.32 (A) Intron variant 32
rs2070788 0.50 (G) 0.49 (G) Intron variant 32, 77, and 78
rs12329760 0.18 (T) 0.15 (T) Missense variant 8, 79, and 81
rs77675406 0.08 (A) 0.09 (A) 3′ UTR variant 79
rs75603675 0.38 (A) 0.27 (A) Missense variant 9
TNF rs1800610 0.13 (A) 0.18 (A) Intron variant 82
rs1799964 0.18 (C) 0.20 (C) Regulatory region variant 83
rs361525 0.06 (A) 0.08 (A) Regulatory region variant 84
TNF/TNKA rs1800629 0.15 (A) 0.07 (A) Regulatory region variant 32 and 54
TNKA rs1800630 0.13 (A) 0.13 (A) Regulatory region variant 32
TRAF3IP2 rs13190932 0.07 (G) 0.06 (G) Missense variant 85
rs33980500 0.08 (T) 0.12 (T) Missense variant 62
rs13196377 0.06 (G) 0.07 (G) Intron variant 86
VDR rs2228570 0.33 (A) 0.48 (A) Start lost 32

MAF, maximum allele frequency; IBS, Iberians; AMR, Americans, UTR, untranslated region. Frequency data were obtained from Ensembl (87) and dbSNP (88).