Intronic PTPN1 variant tagging a haplotype block associated with reduced insulin sensitivity, higher fasting insulin, and elevated lipids through altered PTP1B expression

Pathogenic missense mutation in PSEN1 (presenilin-1) causing autosomal dominant familial early-onset Alzheimer's disease with exceptionally early symptom onset, typically in the mid-to-late twenties

Alcohol metabolism - flush reaction and cancer risk

Missense variant in the rhinovirus-C receptor CDHR3 that increases cell-surface receptor expression and viral binding ~10-fold, elevating risk of rhinovirus-C respiratory infections and childhood asthma exacerbations

Synonymous variant in BACE1 (beta-secretase 1) linked to modestly elevated Alzheimer's disease risk, particularly in APOE4 carriers; may affect mRNA processing or expression rather than protein sequence.

Decreased-function variant reducing DPD enzyme activity ~30%, requiring 50% fluoropyrimidine dose reduction

Intronic EMSY variant that defines the high-risk haplotype at 11q13.5; the G allele is required for the rs7927894 T risk allele to exert its effect on atopic dermatitis and allergic rhinitis — without G at rs7125552, the rs7927894 T risk effect is abolished

Intronic variant in the calsyntenin-2 gene associated with episodic memory performance and hippocampal inhibitory circuit function

Rare missense variant in CYP3A4 that reduces protein expression and enzymatic activity across multiple drug substrates

Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele increases LRRC32 expression and is associated with elevated risk of atopic asthma, atopic dermatitis, and the eczema-to-asthma progression (atopic march)