Missense variant in the XPD helicase that reduces nucleotide excision repair capacity, increasing susceptibility to DNA damage from UV, tobacco smoke, and environmental carcinogens

STAR missense variant abolishing steroidogenic activity; homozygous carriers develop lipoid congenital adrenal hyperplasia with absent cortisol, aldosterone, and sex hormone production

Intronic variant in the adiponectin gene that influences circulating adiponectin levels, insulin sensitivity, and metabolic response to diet; the T allele is associated with lower adiponectin and higher insulin resistance

Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the C allele independently increases endometriosis susceptibility, with stronger effects in moderate-to-severe disease stages

Strongest known genetic determinant of dopamine beta-hydroxylase activity, controlling the dopamine-to-norepinephrine ratio

Intronic ADIPOQ variant in LD with the promoter region; the minor A allele is associated with reduced circulating adiponectin in women and altered adiponectin dynamics during weight loss

Missense variant in the MYRF/FADS gene cluster region on chromosome 11 associated with circulating omega-3 PUFA and DHA levels; the C allele is linked to lower serum omega-3 and DHA concentrations, likely through linkage disequilibrium with the nearby FADS1/FADS2 desaturase cluster

Enzyme critical for energy production during high-intensity exercise; deficiency reduces sprint and power performance

Intergenic regulatory variant near TNIP1 whose A allele reduces ABIN1-mediated NF-kB braking, conferring OR=1.69 for psoriasis per allele and substantially elevated generalized pustular psoriasis risk in homozygous carriers

Intronic regulatory variant in TSHR intron 1; the A allele reduces thymic expression of the TSH receptor, impairing central tolerance to thyroid antigens and increasing susceptibility to Graves' disease — the most common autoimmune cause of hyperthyroidism