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. 2016 Nov 24;17:237. doi: 10.1186/s13059-016-1106-x

Table 3.

Single variant results demonstrating a significant association among both discovery (p < 7.1 × 10−10) and replication (p < 0.003) stages

Metabolite Variant information Discovery (AA) Replication (EA)
Gene SNP Function Chr:position REF/ALT MAF Beta P Var Exp MAF Beta P Var Exp
Glycine CPS1 rs1047891 Missense 2:211540507 C/A 0.37 0.09 4.5 × 10−19 1.3% 0.31 0.16 4.9 × 10−45 3.6%
Dimethylglycine DMGDH rs933683 Intronic 5:78324003 G/T 0.44 −0.15 2.3 × 10−14 1.9% 0.29 −0.09 9.5 × 10−6 0.7%
Asparagine AGA rs11131799 Intronic 4:178363378 G/A 0.49 −0.14 2.4 × 10−10 2.5% 0.36 −0.26 3.9 × 10−23 4.5%
N-acetyl-1-methylhistidine NAT8 rs13538 Missense 2:73868328 A/G 0.48 0.34 3.3 × 10−75 9.7% 0.23 0.51 3.4 × 10−85 14.2%
Glutarylcarnitine SYCE2 rs8012 Missense 19:13010520 A/G 0.19 −0.12 9.5 × 10−14 1.2% 0.46 −0.11 2.5 × 10−17 1.5%
N-acetyl phenylalanine ALMS1P rs13431529 Intronic 2:73876041 G/C 0.49 0.09 4.3 × 10−10 1.0% 0.23 0.06 1.2 × 10−5 0.4%
3-Methoxytyrosine DDC rs11575302 Silent 7:50607694 G/A 0.15 0.15 2.5 × 10−17 1.5% 0.02 0.19 1.4 × 10−7 0.5%
Indolepropionate ACSM5 rs8044331 Intronic 16:20450302 T/C 0.42 −0.17 5.3 × 10−10 1.8% 0.22 −0.11 0.001 0.5%
Alpha-hydroxyisovalerate HAO2 rs17023507 UTR5 1:119923247 C/T 0.10 −0.25 1.6 × 10−13 1.9% 0.002 −0.64 0.001 0.4%
Proline PRODH rs1814288 Intronic 22:18923383 C/T 0.30 −0.06 7.8 × 10−12 0.7% 0.21 −0.03 0.003 0.1%
Acisoga VNN1 rs2272996 Missense 6: 133015271 T/C 0.19 0.18 8.1 × 10−16 0.2% 0.27 0.26 4.8 × 10−34 5.1%

REF/ALT reference allele and alternative allele, MAF minor allele frequency, VarExp variance explained by the loci