sphingomyelin (d18:2/14:0, d18:1/14:1)* to sphingomyelin (d17:1/14:0, d16:1/15:0)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

Region: rs7157785

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
-0.152
Position:
64235556
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
-13.197
Reference Allele:
G
-log10(P):
-89.888
MAF:
0.166
Beta (Num):
0.047
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.199
SE (Den):
0.019
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

Region: rs1321940

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:
20
Beta (Ratio):
-0.093
Position:
12959885
SE (Ratio):
0.009
Effect Allele:
A
Z-score (Ratio):
-10.447
Reference Allele:
G
-log10(P):
-57.152
MAF:
0.386
Beta (Num):
-0.012
Novel Locus:
Yes ✔️
SE (Num):
0.013
Beta (Den):
0.081
SE (Den):
0.014
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects the activity of fatty acid desaturase enzymes, like FADS1, which alter the saturation of fatty acid chains incorporated into sphingomyelins.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 gene variants impact the composition of fatty acids in sphingolipids and other lipids, which is associated with metabolic phenotypes like Type 2 diabetes, hypercholesterolemia, and cholelithiasis.7[1], 1[2], 8[3]

Phenotype Driver:

Gene-centric:FADS1

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