Synonymous variant in TLR9 that increases receptor expression, amplifying innate immune responses to bacterial and viral DNA via CpG motif recognition

X-linked extracellular matrix variant affecting skin connective tissue integrity and stretch mark susceptibility

Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, causing aberrant splicing and haploinsufficiency; strongly associated with hypertrophic cardiomyopathy (autosomal dominant)

Near-gene regulatory variant near FUT6 that lowers circulating vitamin B12

Intronic variant within IL1A (Interleukin-1 alpha) associated with endometriosis risk in Japanese and European GWAS; the G allele increases susceptibility by tagging IL-1α-driven peritoneal inflammation at a locus replicated across ancestries

Intronic NEDD4L variant

Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PROS1; homozygotes develop severe neonatal protein S deficiency with life-threatening thrombosis, and heterozygotes carry partial deficiency with meaningfully elevated VTE risk

Intronic ABCA1 variant influencing HDL-cholesterol levels; the A allele is associated with modestly reduced HDL.

Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromatin looping to the IRF5 alternative promoter, driving overexpression of IRF5-short transcripts and increasing risk for lupus, Sjögren's syndrome, inflammatory bowel disease, and other autoimmune conditions; the leading causal candidate for the 5' IRF5 risk signal and a tag for the CGGGG promoter insertion that creates an extra Sp1 binding site

Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor protein in hypothalamic leptin and insulin signaling; A allele is associated with increased BMI and metabolic risk in large GWAS studies