Table 2. Top loci identified during genetic validation of BioAge pathway annotations.

Locus (SNP)	Chr	Alleles	Gene	Mutation	Associated signals*	Enriched pathways (p < 0.01) linked to gene
rs1105879	2	A/C	UGT1A6	R184S	1-methylnicotinamide, 54 unknowns	EHMN:Porphyrin metabolism; KEGG:Porphyrin and chlorophyll metabolism—Homo sapiens (human); Reactome:Metabolism of porphyrins
rs36004833	7	A/G	SLC13A4	P451S	creatine, sarcosine, 7 unknowns	Reactome:SLC-mediated transmembrane transport; Reactome:Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
rs5030858	12	C/T	PAH	R408W	phenylalanine, cholate, 10 unknowns	Reactome:Metabolism of amino acids and derivatives; Wikipathways:Biogenic Amine Synthesis; Wikipathways:SIDS Susceptibility Pathways; Reactome:Phenylalanine and tyrosine catabolism; SMPDB:Tyrosinemia Type 2 (or Richner-Hanhart syndrome); SMPDB:Phenylalanine and Tyrosine Metabolism; SMPDB:Phenylketonuria; SMPDB:Tyrosinemia Type 3 (TYRO3); KEGG:Phenylalanine, tyrosine and tryptophan biosynthesis—Homo sapiens (human); KEGG:Phenylalanine metabolism—Homo sapiens (human); HumanCyc:phenylalanine degradation/tyrosine biosynthesis
rs30842	16	T/G	GOT2	V346G	5 TAGs (C46:2, C46:3, C48:3, C48:4, C48:5), 6 unknowns	INOH:Glycine Serine metabolism; SMPDB:4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency; SMPDB:Glutamate Metabolism; SMPDB:2-Hydroxyglutric Aciduria (D And L Form); SMPDB:Hyperinsulinism-Hyperammonemia Syndrome; SMPDB:Succinic semialdehyde dehydrogenase deficiency; SMPDB:Homocarnosinosis; INOH:Phenylalanine degradation; HumanCyc:4-hydroxyproline degradation; KEGG:Phenylalanine metabolism—Homo sapiens (human)
rs11657051	17	C/T	ARSG	R398W	26 unknowns	Reactome:Gamma carboxylation, hypusine formation and arylsulfatase activation

Bolded loci are discussed in main text. Pathway names are separated by “;”.

* Unique BioAge signals matched to associated (p < 1 × 10⁻⁵) OE signals are shown.