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. 2018 Mar 1;9:898. doi: 10.1038/s41467-018-03395-6

Table 1.

List of 25 genome-wide significant SNPs in 23 loci that are associated with HR increase or HR recovery

CHR SNPs Position (hg19) EA(Freq)/NEA Beta SE p Candidate gene Primary Trait
1 rs11589125 31894396 T(0.06)/C 0.075 0.013 6.60 × 10−09 SERINC2 n,c HRR50
1 rs272564 45012273 A(0.71)/C 0.046 0.007 1.40 × 10−12 RNF220 n,h HRR50
1 rs61765646 72723211 A(0.19)/T 0.056 0.008 1.10 × 10−13 NEGR1 n HRR10
2 rs1899492 60000304 T(0.47)/C 0.040 0.006 1.70 × 10−11 Gene desert HRR40
2 rs17362588 179721046 G(0.92)/A 0.062 0.011 3.10 × 10−09 CCDC141n,c,TTNh HRR10
2 rs35596070 179759692 C(0.86)/A 0.060 0.008 4.20 × 10−13 CCDC141n,c,TTNh HRR10
3 rs73043051 18883863 C(0.22)/T 0.041 0.007 7.80 × 10−09 KCNH8 n HRR50
3 rs34310778 74783408 C(0.43)/T 0.036 0.006 1.00 × 10−09 CNTN3 n,e HRR30
5 rs4836027 121866990 T(0.68)/C 0.050 0.006 1.70 × 10−15 SNCAIPn,PRDM6n,h HRinc
5 rs151283 122446619 C(0.72)/A 0.042 0.007 1.60 × 10−10 PRDM6 nh HRR50
6 rs2224202 102053814 A(0.19)/G 0.043 0.007 5.80 × 10−09 GRIK2 n,h HRR20
7 rs2158712 26582733 A(0.52)/T 0.045 0.006 2.80 × 10−13 SKAP n,h HRR10
7 rs180238 93550447 T(0.65)/C 0.043 0.006 2.20 × 10−12 GNG11n,GNGT1n,e,TFPI2n,e HRR40
7 rs3757868 100482720 G(0.82)/A 0.077 0.008 5.60 × 10−24 SRRTn,e,ACHEn,e,TRIP6e,C7orf43n,e,UFSP1n HRR40
7 rs1997571 116198621 A(0.58)/G 0.042 0.006 1.70 × 10−12 CAV1n,h,CAV2n,e,h HRR20
7 rs17168815 136624621 G(0.84)/T 0.062 0.008 1.10 × 10−14 CHRM2 n HRR50
10 rs7072737 102556175 A(0.11)/G 0.079 0.009 1.10 × 10−17 PAX2 n HRR40
11 rs7130652 71984398 T(0.07)/G 0.076 0.011 3.40 × 10−11 CLPBn,h,INPPL1n,e HRR10
12 rs4963772 24758480 A(0.15)/G 0.090 0.008 1.20 × 10−28 BCAT1 n HRR40
12 rs6488162 33593127 C(0.58)/T 0.103 0.006 2.60 × 10−66 SYT10n,ALG10h HRR10
12 rs61928421 116227249 C(0.93)/T 0.090 0.012 4.30 × 10−15 MED13L n HRR40
14 rs17180489 72885471 C(0.14)/G 0.055 0.008 2.50 × 10−11 RGS6 n,h HRinc
15 rs12906962 95312071 T(0.67)/C 0.048 0.006 2.70 × 10−14 MCTP2 n HRinc
19 rs12974440 5894386 G(0.92)/A 0.067 0.011 2.40 × 10−10 FUT5n, NDUFA11n,c HRR10
19 rs12986417 30109533 G(0.65)/A 0.037 0.006 1.00 × 10−09 POP4n,C19orf12h HRinc

HRinc HR increase, HRRx HR recovery at x seconds, CHR Chromosome, EA effect allele, NEA Non-effect allele, SE Standard error

n nearest gene or any other gene in 10 kbc coding variant gene

e eQTL gene

h Hi-C long-range interaction gene

More detailed information can be found in Supplementary Table 2 and 3