Common MC3R missense variant that reduces receptor expression and shifts nutrient partitioning toward fat storage, particularly when co-inherited with the Thr6Lys variant (rs3746619)

Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with serum TSH levels; each A allele raises TSH by ~0.13 mIU/L, with consequences for ovulatory function, implantation, and pregnancy maintenance

Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gene that acts as an sQTL and eQTL, reducing ASGR1 expression and associating with lower LDL and non-HDL cholesterol at genome-wide significance and reduced coronary artery disease risk

Intergenic tag SNP in near-perfect linkage disequilibrium with the HSD17B13 splice variant (rs72613567); the G allele tags HSD17B13 loss-of-function and is associated with reduced risk of NAFLD, NASH, cirrhosis, and lower liver enzymes — effects entirely attributable to LD rather than independent function

Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele was associated with gout susceptibility in a recessive model in a Taiwanese population, though a Japanese replication study found no association

Intergenic enhancer variant near MYC oncogene — modestly increases colorectal and prostate cancer susceptibility via Wnt signaling

Vitamin D binding protein variant that determines VDBP isoform, affecting vitamin D transport, bioavailability, and supplementation response

Intronic variant in transferrin receptor 2 that tags altered TFR2 expression and iron-sensing function in hepatocytes, associating with lower transferrin saturation and serum iron in the C-allele direction

Intronic variant in the de novo DNA methyltransferase DNMT3A, associated with altered stress-response methylation patterns and immune cell ratios

Missense variant in EVI5's coiled-coil domain altering immune cell trafficking and multiple sclerosis susceptibility