21-hydroxypregnenolone disulfate to n-acetylphenylalanine

Numerator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

Denominator Metabolite

Structure of n-acetylphenylalanine
Metabolite Accession: GCST90200677
Name: n-acetylphenylalanine
Hmdb Id: HMDB0000512
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBQJSKKFNMDLON

Associated Genomic Regions

Region: rs1165195

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):
0.309
Position:
25815080
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
15.053
Reference Allele:
G
-log10(P):
-116.236
MAF:
0.444
Beta (Num):
0.162
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.147
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis3[1], 4[2]

Denominator Metabolite Explanation:

Phenylalanine metabolism5[1], 6[2]

Ratio Explanation:

none

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

Altered SLC17A4 function likely impacts urate transport, leading to changes in serum uric acid levels, a listed phenotype.1[1], 7[2] The hematological phenotypes may be linked to SLC17A4's role in thyroid hormone transport or hematopoietic cell expression, but evidence is indirect.8[3], 2[4], 9[5]

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