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Table 1 EA (European-American) population, LoF-metabolite relationships at p-value 4e-07 or smaller. Effect sizes measured in standard deviation units to facilitate comparison. The last column “Human phenotypes related to metabolites” was obtained through Human Metabolome database, http://www.hmdb.ca/

From: Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics

Gene SNP MAF Metabolite Path-way Effect Size (Std. Error) p-value Human phenotypes related to metabolites
TPTE X21:10907041:C:A 8 O-sulfo-L-tyrosine 1.75 (0.34) 2e-07  
myoinositol Lipid 2.23 (0.35) 2e-10 Schizophrenia
MYO1A X12:57441459:G:A 9 heptanoate Lipid 1.95 (0.33) 4e-09 Cardiac disease
glycerol Lipid 1.70 (0.33) 3e-07 Schizophrenia, Diabetes mellitus type 2
GZMM X19:549171:C:T 4 octanoylcarnitine Lipid 1.46 (0.26) 4e-08 Medium-chain acyl-CoA dehydrogenase deficiency
PLAC4 X21:42551432:T:A 9 androsten-3-beta-17 beta-diol-disulfate1 Lipid 1.95 (0.33) 4e-09 NA
LRTOMT X11:71807767:A:C 10 betaine   0.67 (0.23) 7e-09 Chronic renal failure and hemodialysis, Schizophrenia
PDE4DIP X1:145074975:G:A 17 dodecanedioate Lipid 1.84 (0.24) 1e-14 Diabetes mellitus type 2 (34)
OBSCN X1.228469903.A.T 8 serine Amino acid 1.89 (0.34) 7e-08 Schizophrenia and epilepsy, Leukemia, Heart failure
THSD7B X2:138030234:C:T 19 glycylvaline Peptide 1.61 (0.23) 1e-12 NA
C5orf45 X5:179280392:G:A 8 cis-4-decenoylcarnitine Lipid 3.10 (0.34) 2e-16 Celiac disease, Very long chain acyl-Coa dehydrogenase deficiency
DSE X6.116600895.G.A 10 pregn steroid monosulfate Lipid 1.65 (0.31) 1e-07 Schizophrenia
EGFL8 X6:32134395:C:G 8 myristoleate Lipid 2.51 (0.35) 8e-13 NA
GPNMB X7:23313823:G:T 12 lactate Amino acid 1.80 (0.28) 3e-10 Hepatobiliary, Psychiatric, Mitochondrial dysfunction, Metabolism and nutrition disorders
C10orf53 X10:50901917:C:A 8 hydroxybutyrate Amino acid 1.78 (0.35) 4e-07 Schizophrenia, Pyruvate dehydrogenase deficiency
SERPINA10 X14:94754643:C:T 14 prohydroxyproline   1.45 (0.26) 4e-08 NA
LTK X15:41796352:C:A 8 glycocholenatesulfate Lipid 2.04 (0.35) 6e-09 NA
CCDC154 X16:1484536:C:T 14 glycerol-phosphorylcholine Lipid 1.41 (0.26) 1e-07 Multi-infarct dementia
RHBDL1 X16:726189:C:T 14 phosphate Lipid 1.75 (0.26) 4e-11 NA
ZNF211 X19:58153465:T:A 12 myristoleate Lipid 1.73 (0.28) 1e-09 NA