carboxyethyl-gaba to n-acetylhistidine

Numerator Metabolite

Structure of carboxyethyl-gaba
Metabolite Accession: GCST90199918
Name: carboxyethyl-gaba
Hmdb Id: HMDB0002201
Super Pathway: NA
Sub Pathway: NA
Inchikey: SRGQUICKDUQCKO

Denominator Metabolite

Structure of n-acetylhistidine
Metabolite Accession: GCST90199735
Name: n-acetylhistidine
Hmdb Id: HMDB0032055
Super Pathway: NA
Sub Pathway: NA
Inchikey: KBOJOGQFRVVWBH

Associated Genomic Regions

Region: rs2817188

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:
6
Beta (Ratio):
0.229
Position:
25807603
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
10.793
Reference Allele:
G
-log10(P):
-60.854
MAF:
0.445
Beta (Num):
0.137
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.093
SE (Den):
0.016
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Polyamine and GABA metabolism.7[1], 8[2], 9[3], 10[4]

Denominator Metabolite Explanation:

Histidine metabolism, N-acetylation.11[1], 12[2], 13[3], 14[4]

Ratio Explanation:

The ratio may reflect altered transport activity by SLC17A4, which could influence the extracellular levels of these unrelated metabolites or their precursors.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

The SLC17A4 missense variant likely alters its transport of uric acid, a directly associated phenotype. This gene-phenotype link is strong, while the connection to the hematological traits (MCH, MCV, etc.) is less direct but potentially related to the transporter's broad substrate specificity or downstream metabolic effects.15[1], 16[2], 17[3], 18[4], 19[5]

Phenotype Driver:

Gene-centric:SLC17A4

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