Intronic variant in the estrogen receptor alpha gene (intron 1) associated with endometriosis-related infertility, IVF outcomes, severe pre-eclampsia risk, and ovarian reserve; the G allele increases endometriosis-related reproductive risk while showing some population-specific protective effects for fractures

Intronic variant in SYCP2L on chromosome 6p24.2; the G allele associates with earlier natural menopause (approximately 0.17 years per allele copy)

Pathogenic missense variant at the TMPRSS3 autocatalytic cleavage site causing serine protease domain dysfunction and autosomal recessive sensorineural hearing loss (DFNB8/DFNB10); originally identified in consanguineous Turkish families

Intergenic regulatory variant near TBX21 associated with allergic asthma susceptibility; G allele homozygosity carries markedly elevated asthma risk through reduced T-bet-driven Th1 immune tone

Signal-peptide missense variant; C allele carriers show modestly lower plasma homocysteine

Missense variant in insulin receptor substrate 1 that impairs tyrosine phosphorylation and PI3-kinase recruitment, reducing insulin signaling and increasing type 2 diabetes risk and oral antidiabetes drug failure

Deep intronic CYP2C9 variant associated with altered drug response

Intronic FABP1 variant associated with type 2 diabetes risk and insulin resistance

5' UTR variant in the APH1A gamma-secretase subunit gene, located 21 bp upstream of the translation start codon; studied alongside the -980C/G risk variant in sporadic Alzheimer's disease but not independently associated with disease risk

3'UTR variant that alters miR-150 binding affinity; the C allele increases microRNA-mediated suppression of MTOR expression and is associated with improved cancer prognosis and reduced mTOR pathway activity