Intronic MTRR tag SNP in a haplotype block where the C-allele variant associates with attenuated colorectal cancer survival benefit, modulated by pre-diagnostic alcohol intake

Promoter variant reducing UCP1 expression in brown adipose tissue, impairing cold-induced and postprandial thermogenesis and increasing visceral fat accumulation with age

Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisphosphonate-related osteonecrosis risk in multiple myeloma

Affects TSH receptor sensitivity and thyroid hormone regulation; influences TSH levels, metabolic function, and congenital hypothyroidism risk

Promoter variant affecting VEGF-A expression and angiogenesis, influencing muscle adaptation to training and soft tissue injury risk

Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 desaturase activity, shifting the conversion of linoleic acid toward lower arachidonic acid production and modifying LDL-C in a diet-dependent manner.

Promoter variant that reduces mTOR expression; the G allele lowers mTOR transcriptional activity and is associated with decreased cancer risk across multiple tumor types

Intronic variant in estrogen receptor alpha that alters ESR1 expression and has been associated with gestational hypertension risk and breast cancer susceptibility

The most common OTC point mutation, abolishing ornithine transcarbamylase enzyme activity and causing X-linked urea cycle deficiency; hemizygous males face neonatal hyperammonemic crisis while heterozygous females have variable partial deficiency

Pathogenic LDLR missense variant abolishing LDL receptor surface expression, causing familial hypercholesterolemia with severely elevated LDL-C from birth