glutamine conjugate of c7h12o2* to stearate (18:0)

Numerator Metabolite

Metabolite Accession: GCST90200167
Name: glutamine conjugate of c7h12o2*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of stearate (18:0)
Metabolite Accession: GCST90200390
Name: stearate (18:0)
Hmdb Id: HMDB0000827
Super Pathway: NA
Sub Pathway: NA
Inchikey: QIQXTHQIDYTFRH

Associated Genomic Regions

Region: rs35630725;rs1890452

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.157
Position:
76192508
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
9.336
Reference Allele:
G
-log10(P):
-46.053
MAF:
0.338
Beta (Num):
0.112
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.045
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, glutamine conjugation.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.7[1]

Ratio Explanation:

This ratio likely reflects ACADM activity; impaired function leads to the accumulation of medium-chain fatty acid conjugates (numerator) relative to long-chain fatty acids (denominator).1[1], 8[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype was associated with the ratio; however, genetic variants in ACADM are linked to Medium-Chain Acyl-CoA Dehydrogenase deficiency (MCADD), an inborn error of metabolism.1[1], 9[2]

Phenotype Driver:

none

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data