Frameshift deletion in TMPRSS3 causing premature stop at codon 88; a severe pathogenic allele and Slovenian founder mutation causing DFNB8/10 autosomal recessive sensorineural hearing loss

Splice site variant creating a non-functional CYP3A5 enzyme, dramatically affecting metabolism of tacrolimus and other immunosuppressants

Intronic proxy variant in RAD51B associated with seropositive rheumatoid arthritis risk; the C allele is protective while the T allele tags a haplotype at the RAD51B locus that predisposes to anti-CCP-positive RA and more severe joint erosion

Second strongest genetic risk factor for Alzheimer's disease after APOE, associated with increased tau pathology and accelerated cognitive decline

Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of hepatitis C spontaneous clearance and treatment response, with independent predictive value over rs12979860 in Asian populations

Intergenic tag SNP between HLA-DQB1 and HLA-DQA2 tagging the HLA-DQA1*01:02 risk haplotype; the C allele confers ~1.7-fold increased susceptibility to peanut allergy and is associated with multiple sclerosis risk

Rare missense variant in microglial receptor TREM2 that significantly increases late-onset Alzheimer's disease risk through impaired microglial function and amyloid clearance

Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carcinoma risk in smokers through altered carcinogen metabolism

Intronic variant in the IL1RL1 gene on chromosome 2q12 encoding the ST2 receptor for IL-33; the T allele is associated with reduced allergic rhinitis risk, particularly in males, by modulating IL-33/ST2 signaling amplitude

GBA missense variant (p.Asn409Ser, formerly N370S) — the most common GBA pathogenic allele; heterozygotes carry substantially elevated risk for Parkinson's disease, Lewy body dementia, and REM sleep behavior disorder; homozygotes develop Gaucher disease type I