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. Author manuscript; available in PMC: 2014 Jun 1.
Published in final edited form as: Nat Genet. 2013 Apr 14;45(6):621–631. doi: 10.1038/ng.2610

Table 1.

Stage 1 and stage 2 results for the loci that showed association with heart rate at genome-wide significance (P < 5 × 10−8)

Alleles
Per-allele change in heart rateb
Stage 1 Stage 2 Stages 1 + 2
Locus Chr. Nearest gene Annotation Heart rate SNP Position (bp)a Effect Other EAF β SE P P N P
Previously identified heart rate loci
1 14 MYH6 N,P,S rs365990 22931651 G A 0.353 0.564 0.047 5.66 × 10−26 2.19 × 10−21 148,972 5.39 × 10−45
2 6 GJA1 S rsl015451 122173184 C T 0.102 0.713 0.072 7.06 × 10−20 2.14 × 10−17 155,303 1.14 × 10−32
3 7 ACHE N,Q,S,B rsl3245899 100335067 G A 0.195 0.447 0.055 1.54 × 10−15 3.27 × 10−14 176,643 7.67 × 10−27
4 1 CD46 S,B rs11118555 206007476 A T 0.124 0.612 0.069 4.35 × 10−14 7.49 × 10−15 166,654 3.88 × 10−26
5 11 FADS1 Q,S,B rsl74549 61327958 A G 0.310 0.358 0.047 1.13 × 10−12 1.57 × 10−12 172,847 1.38 × 10−22
6 6 SLC35F1 T,Q,P,S rslll53730 118774215 T C 0.509 0.381 0.044 7.01 × 10−15 8.79 × 10−9 156,783 7.55 × 10−21
7 12 LINC00477 (C12orf67) rsl7287293 24662145 A G 0.850 0.444 0.062 6.90 × 10−12 3.98 × 10−11 151,085 3.07 × 10−20
Newly identified heart rate loci
8 20 KIAA1755 N,S rs6127471 36277452 C T 0.540 0.429 0.045 5.96 × 10−23 2.98 × 10−10 162,593 5.22 × 10−29
9 2 CCDC141 N,P,S rs17362588 179429291 A G 0.114 0.736 0.077 3.25 × 10−18 4.22 × 10−11 136,061 3.57 × 10−26
10 12 SYT10 rs7980799 33468257 A C 0.401 0.377 0.046 7.91 × 10−14 7.87 × 10−13 166,043 6.22 × 10−24
11 15 HCN4 S rs4489968 71452559 T G 0.843 0.513 0.060 8.89 × 10−15 3.34 × 10−8 160,858 3.82 × 10−20
12 3 GNB4 S rs7612445 180655673 G T 0.816 0.358 0.060 2.41 × 10−7 7.78 × 10−10 140,395 1.86 × 10−14
13 14 FLRT2 S rsl7796783 84879664 T C 0.716 0.334 0.049 1.65 × 10−9 5.76 × 10−6 145,835 2.69 × 10−13
14 7 CHRM2 S rs2350782 136293174 C T 0.116 0.505 0.078 1.57 × 10−7 2.63 × 10−7 131,781 1.26 × 10−12
15 5 NKX2-5 Q,S rs6882776 172596769 G A 0.680 0.301 0.051 9.67 × 10−6 7.43 × 10−9 158,807 2.29 × 10−12
16 7 GNG11 C,Q,S,B rsl80242 93387532 T A 0.333 0.316 0.053 7.52 × 10−7 5.59 × 10−7 148,111 6.78 × 10−12
17 2 B3GNT7 N,Q,S,P,B rsl3030174 231979528 A C 0.733 0.300 0.051 1.13 × 10−6 3.66 × 10−4 144,810 1.04 × 10−10
18 3 FNDC3B S rs9647379 173267862 C G 0.400 0.206 0.047 2.59 × 10−7 3.07 × 10−4 137,314 1.17 × 10−9
19 12 RFX4 S rs2067615 105673552 A T 0.490 0.278 0.044 1.05 × 10−7 8.49 × 10−4 151,197 1.58 × 10−9
20 12 CPNE8 rs826838 37392998 C T 0.443 0.234 0.045 3.32 × 10−7 6.20 × 10−4 166,632 3.73 × 10−9
21 2 TFPI N,S rs4140885 188041309 A G 0.317 0.217 0.049 1.85 × 10−6 1.40 × 10−3 170,395 4.72 × 10−8

Chr., chromosome. EAF, effect allele frequency based on meta-analysis of stages 1 and 2 combined. Annotation shows whether the heart rate-associated SNP is (i) in strong LD (r2 > 0.8) with a copy number variant (C), nonsynonymous variant (N) or variant in a transcription factor binding site (T); (ii) associated with an eQTL (Q); (iii) expressed at the protein level in mouse heart and phosphorylated upon stimulation of the β1AR (P); (iv) located in or near a gene that was identified as being of potential relevance for heart rate using the automated literature search program SNIPPER (S); or (v) located in or near a biological candidate gene for heart rate (B).

a

Positions are according to HapMap Build 36, and allele coding is based on the positive strand.

b

Effect sizes in bpm per effect allele obtained from stage 1 and stage 2 cohorts with heart rate as only outcome (N > 96,790; excludes data from the RRgen Consortium and ERF)