beta-hydroxyisovalerate to formiminoglutamate

Numerator Metabolite

Metabolite Accession: GCST90200322
Name: beta-hydroxyisovalerate
Hmdb Id: HMDB0000754
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of formiminoglutamate
Metabolite Accession: GCST90199905
Name: formiminoglutamate
Hmdb Id: HMDB0000854
Super Pathway: NA
Sub Pathway: NA
Inchikey: NRXIKWMTVXPVEF

Associated Genomic Regions

Region: rs9940632

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:
16
Beta (Ratio):
0.499
Position:
20563253
SE (Ratio):
0.053
Effect Allele:
G
Z-score (Ratio):
9.369
Reference Allele:
A
-log10(P):
-46.365
MAF:
0.024
Beta (Num):
0.358
Novel Locus:
No
SE (Num):
0.049
Beta (Den):
-0.142
SE (Den):
0.048
No CNV overlap
rQTL cluster:
28
Reaction Distance:
NA
Closest Genes:
ACSM2B ACSM3 AC137056.1 ACSM2A ACSM1

LLM Analysis

Numerator Metabolite Explanation:

Leucine degradation.6[1], 7[2]

Denominator Metabolite Explanation:

Histidine degradation.8[1], 9[2], 10[3]

Ratio Explanation:

This ratio contrasts leucine (partially biotin-dependent) and histidine (folate-dependent) catabolism; the pQTL colocalization for CRYM suggests a potential, but uncharacterized, regulatory link between these pathways.6[1], 8[2], 3[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

No associated phenotype was provided; therefore, a causal link between the genetic factors, the metabolite ratio, and a specific phenotype cannot be established.

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