Top obesity GWAS variant near NEGR1 — affects hypothalamic appetite regulation and neuronal growth

A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of the gene's promoter; the A allele is associated with earlier age at natural menopause via a recessive mechanism, linking piRNA-pathway genome surveillance in oocytes to ovarian reserve and reproductive lifespan

3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis susceptibility across multiple ethnic populations; one of eight replicated IL1A locus SNPs linked to the chronic pelvic inflammatory environment that promotes ectopic endometrial implantation.

Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosing spondylitis and psoriasis risk through altered MHC class I peptide trimming — effect contingent on HLA-B27 and HLA-C*06:02 carrier status

VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VIII levels, particularly in blood group O carriers, increasing bleeding risk when combined with other VWF variants or low-VWF states

Intronic indel in the MIR4300 host gene that reduces enhancer activity and MIR4300 expression, increasing risk of progressive spinal curvature in adolescent idiopathic scoliosis

Intronic variant in the angiotensinogen (AGT) gene; the T allele has been incorporated into diastolic blood pressure prediction models and sits in a gene whose renin-angiotensin signaling role makes it a plausible contributor to blood pressure regulation during pregnancy, including gestational hypertension and preeclampsia susceptibility

Missense variant in the signal peptide of complement factor B forming the H10 protective haplotype that reduces age-related macular degeneration risk by ~50% and dampens alternative complement pathway activation

Intergenic variant near caveolin genes affecting primary open-angle glaucoma risk and intraocular pressure regulation

Intronic SLC2A9 tag variant tracking the GLUT9 urate-reabsorption haplotype; the A allele follows the same population frequency gradient as established SLC2A9 risk alleles — highest in East Asians (~92%), lowest in Africans (~34%) — tagging elevated renal urate retention and higher gout risk; the G allele tracks the protective, urate-lowering haplotype