beta-hydroxyisovalerate to 4-hydroxyphenylacetoylcarnitine

Numerator Metabolite

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

Denominator Metabolite

Metabolite Accession: GCST90200027
Name: 4-hydroxyphenylacetoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs28415528

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.313
Position:
151879761
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-14.495
Reference Allele:
G
-log10(P):
-107.961
MAF:
0.317
Beta (Num):
-0.108
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.205
SE (Den):
0.017
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC S100A10

Region: rs77863699

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):
0.678
Position:
20563528
SE (Ratio):
0.067
Effect Allele:
C
Z-score (Ratio):
10.143
Reference Allele:
T
-log10(P):
-53.988
MAF:
0.024
Beta (Num):
0.356
Novel Locus:
No
SE (Num):
0.049
Beta (Den):
-0.323
SE (Den):
0.053
No CNV overlap
rQTL cluster:
28
Reaction Distance:
NA
Closest Genes:
ACSM2B ACSM3 AC137056.1 ACSM2A ACSM1

LLM Analysis

Numerator Metabolite Explanation:

Leucine degradation

Denominator Metabolite Explanation:

Phenylalanine and tyrosine metabolism

Ratio Explanation:

The ratio of beta-hydroxyisovalerate to 4-hydroxyphenylacetylcarnitine may reflect altered mitochondrial fatty acid and amino acid metabolism, but a direct link is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

No phenotype association was provided, so a link between the gene, metabolite ratio, and a 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