sphingomyelin (d18:2/21:0, d16:2/23:0)* to glutarylcarnitine (c5-dc)

Numerator Metabolite

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of glutarylcarnitine (c5-dc)
Metabolite Accession: GCST90199799
Name: glutarylcarnitine (c5-dc)
Hmdb Id: HMDB0013130
Super Pathway: NA
Sub Pathway: NA
Inchikey: NXJAXUYOQLTISD

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
0.178
Position:
211540507
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
8.651
Reference Allele:
C
-log10(P):
-39.816
MAF:
0.310
Beta (Num):
0.076
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
-0.102
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid synthesis, Ceramide synthesis.6[1], 7[2], 8[3], 9[4], 10[5]

Denominator Metabolite Explanation:

Lysine and tryptophan metabolism.11[1], 12[2]

Ratio Explanation:

none

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

A dysfunctional CPS1 enzyme can lead to hyperammonemia, which is associated with kidney dysfunction (renal failure, chronic kidney disease) and has been linked to intrahepatic cholelithiasis.13[1], 14[2], 15[3] The ratio may reflect broader metabolic dysregulation, including altered lipid and amino acid metabolism.

Phenotype Driver:

Gene-centric:CPS1

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