stearoyl sphingomyelin (d18:1/18:0) to sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Denominator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1466448

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

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
-0.291
Position:
8289519
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
-15.718
Reference Allele:
A
-log10(P):
-126.508
MAF:
0.191
Beta (Num):
-0.230
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.061
SE (Den):
0.017
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis.4[1], 7[2], 8[3]

Ratio Explanation:

The ratio likely reflects the activity of CERS4, which produces C18:0 ceramides, relative to other ceramide synthases responsible for very long-chain fatty acid ceramides.9[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype association was provided in the input data, so a link between the CERS4-driven ratio and a clinical outcome 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