sphingomyelin (d18:2/16:0, d18:1/16:1)* to sphingomyelin (d17:2/16:0, d18:2/15:0)*

Numerator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs3761895

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:
20
Beta (Ratio):
-0.121
Position:
12990044
SE (Ratio):
0.014
Effect Allele:
T
Z-score (Ratio):
-8.818
Reference Allele:
C
-log10(P):
-41.297
MAF:
0.254
Beta (Num):
-0.050
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.071
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid de novo synthesis

Denominator Metabolite Explanation:

Sphingolipid de novo synthesis

Ratio Explanation:

The ratio contrasts common even-chain sphingomyelins with atypical odd-chain sphingomyelins, reflecting SPTLC3-mediated fatty acid substrate selection during their synthesis.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants near SPTLC3 are associated with altered sphingolipid profiles by affecting the balance between even- and odd-chain fatty acid incorporation during synthesis.1[1], 3[2] No associated phenotype was provided.

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