sphingomyelin (d17:1/14:0, d16:1/15:0)* to sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*

Numerator Metabolite

Metabolite Accession: GCST90200169
Name: sphingomyelin (d17:1/14:0, d16:1/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Metabolite Accession: GCST90200134
Name: sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: JONXXLXMISNQNG

Associated Genomic Regions

Region: rs12878001

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:
14
Beta (Ratio):
0.256
Position:
64239629
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
14.269
Reference Allele:
T
-log10(P):
-104.692
MAF:
0.166
Beta (Num):
0.198
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.058
SE (Den):
0.021
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects the balance between different species of sphingomyelin, potentially indicating shifts in sphingolipid metabolism and signaling pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Alterations in SGPP1 may disrupt sphingolipid balance, impacting lipoprotein metabolism and platelet function, which are linked to the observed phenotypes.6[1], 7[2], 8[3]

Phenotype Driver:

Gene-centric:SGPP1

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