sphingomyelin (d18:2/24:1, d18:1/24:2)* to n-stearoyl-sphingadienine (d18:2/18:0)*

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of n-stearoyl-sphingadienine (d18:2/18:0)*
Metabolite Accession: GCST90200111
Name: n-stearoyl-sphingadienine (d18:2/18:0)*
Hmdb Id: HMDB0240362
Super Pathway: NA
Sub Pathway: NA
Inchikey: LBBFOWQGVUEADU

Associated Genomic Regions

Region: rs1466448

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:
19
Beta (Ratio):
0.232
Position:
8289519
SE (Ratio):
0.024
Effect Allele:
C
Z-score (Ratio):
9.633
Reference Allele:
A
-log10(P):
-48.896
MAF:
0.192
Beta (Num):
0.075
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.157
SE (Den):
0.020
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2], 7[3]

Ratio Explanation:

This ratio reflects the conversion of ceramide (denominator) to sphingomyelin (numerator), a key step in sphingolipid metabolism modulated by CERS4 activity.4[1], 8[2], 9[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

none

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