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. 2021 Feb 25;19:85. doi: 10.1186/s12967-021-02751-3

Table 2.

Lead SNPs Associated with CVD at Genome-wide Significance by GWAS

SNP Position Locus Clustered SNPs M/m MAF 1000GenomeFreq
Frequency
Genes Feature CAD IS CCD
Asian Eur Amer OR P OR P OR P
HTN rs1550676 17:77,801,055 17q25.3 rs74608211, rs145216691, rs559385953 T/C 0.01176

CBX8-CBX4,

CBX2

GAA

CARD14

SLC26A11

Intergenic 2.607 (1.886–3.602) 6.37E−09 0.5929 (0.2625–1.339) 2.09E−01 1.927 (1.417–2.621) 2.90E−05
DM rs149608518 4:165,472,675 4q32.3 C/T 0.01035 0.0079 0 0

MARCH1-LINC01207,

APELA

Intergenic 1.425 (0.7313–2.775) 2.98E−01 5.587 (3.086–10.12) 1.34E−08 2.68 (1.639–4.384) 8.55E−05
rs139293840 17:78,530,359 17q25.3 rs957271283, rs147509862 G/A 0.01013 0.0089 0.001 0

RPTOR,

RNF213

CARD14

SLC26A11

Intron 3.359 (2.058–5.484) 1.27E−06 3.111 (1.581–6.124) 1.02E−03 3.511 (2.265–5.444) 1.99E−08
DL rs189668056 2:38,308,827 2p22.2 rs189258819 G/A 0.02031 0.0129 0 0.0187

CYP1B1-

CYP1B1-AS1

Intergenic 1.942 (1.453–2.596) 7.30E−06 2.147 (1.401–3.292) 4.55E−04 2.027 (1.574–2.609) 4.24E−08
rs3897976 3:41,606,692 3p22.1 G/A 0.05095 0.0823 0.1074 0.1153

ULK4,

CTNNB1

Intron 1.008 (0.801–1.269) 9.46E−01 2.162 (1.646–2.84) 2.97E−08 1.301 (1.083–1.562) 4.86E−03
rs79166762 9:92,466,006 9q22.2 rs12115796, rs12115684, rs12115802, rs75847266, rs117445944, rs75273685, rs76097735, rs78819980, rs79641632 T/C 0.01918 0.0159 0 0

UNQ6494-

LOC101927847,

GADD45G

SEMA4D

Intergenic 2.282 (1.724–3.019) 7.78E−09 1.207 (0.6891–2.114) 5.11E−01 1.928 (1.483–2.505) 9.17E−07

Lead SNPs were selected within genome-wide significant variants by lowest p-values. Genes include positional candidate genes within 400 kb of SNP, and initial mapped gene or genetic region is listed first before a comma. Odds ratios are shown as odds ratio (95% confidence interval). SNP, single nucleotide polymorphism; M/m, Major/minor allele; MAF, minor allele frequency; OR, odds ratio; P, p-value