urate to androstenediol (3beta,17beta) disulfate (2)

Numerator Metabolite

Structure of urate
Metabolite Accession: GCST90200307
Name: urate
Hmdb Id: HMDB0000289
Super Pathway: NA
Sub Pathway: NA
Inchikey: LEHOTFFKMJEONL

Denominator Metabolite

Structure of androstenediol (3beta,17beta) disulfate (2)
Metabolite Accession: GCST90199851
Name: androstenediol (3beta,17beta) disulfate (2)
Hmdb Id: HMDB0240313
Super Pathway: NA
Sub Pathway: NA
Inchikey: UWPTUYJASNIIJM

Associated Genomic Regions

Region: rs2817188

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:
6
Beta (Ratio):
-0.157
Position:
25807603
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-8.852
Reference Allele:
G
-log10(P):
-41.595
MAF:
0.444
Beta (Num):
-0.067
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.091
SE (Den):
0.014
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Purine catabolism4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Steroid biosynthesis and metabolism.7[1], 8[2]

Ratio Explanation:

The ratio may reflect the balance between purine breakdown and steroid metabolism, potentially influenced by SLC17A4's role in transporting urate.1[1], 2[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The missense variant in the urate transporter SLC17A4 likely alters urate levels, which is a listed phenotype. This suggests a direct link between the genetic variant, its effect on the numerator of the ratio, and the observed phenotypes related to red blood cell indices and renal function.

Phenotype Driver:

Gene-centric:SLC17A4

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