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

Table 1.

Gene exon-based results demonstrating a significant association among both discovery (p < 4.6 × 10−8) and replication (p < 0.003) stages for the T5 burden test

Metabolite Gene Discovery (AA) Replication (EA)
P Beta cMAC VarExp P Beta cMAC VarExp
Dimethylglycine DMGDH 3.2 × 10−31 0.64 96 3.6% 8.1 × 10−12 0.39 73 1.7%
N-acetylthreonine ACY1 1.1 × 10−10 0.12 239 0.6% 4.7 × 10−5 0.26 24 0.4%
N-acetylalanine ACY1 4.1 × 10−41 0.16 239 1.5% 3.9 × 10−15 0.25 24 0.6%
Asparagine AGA 1.1 × 10−10 0.34 157 1.4% 2.7 × 10−5 0.38 58 0.9%
Indolelactate CCBL1 2.7 × 10−21 0.39 87 1.6% 1.1 × 10−7 0.26 33 0.5%
Alpha-hydroxyisovalerate HAO2 1.6 × 10−8 0.64 21 0.8% 8.2 × 10−6 0.41 18 0.5%
Proline PRODH 1.4 × 10−29 0.14 324 1.4% 1.5 × 10−11 0.09 295 0.7%

cMAC cumulative minor allele count, VarExp variance explained by the loci