Regulatory variant downstream of SERPINA1 associated with increased susceptibility to ANCA-associated vasculitis (GPA/MPA) and higher mortality in AAV patients

Intronic eQTL variant in the aromatase gene CYP19A1; the minor C allele is the strongest common genetic determinant of lower circulating estradiol in postmenopausal women, acting through altered aromatase expression in peripheral tissues.

Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response, conferring the strongest common genetic risk for lupus outside the HLA region

Intronic GBA variant associated with REM sleep behavior disorder via lysosomal autophagy impairment; the T allele confers OR=2.09 for RBD in the largest GWAS of this condition to date

Intronic regulatory variant in IL1RL1 that lowers soluble ST2 (sST2) decoy receptor levels, amplifying IL-33 signaling and increasing susceptibility to asthma, hay fever, and atopic disease

Nitric oxide production - reduced activity increases cardiovascular risk and oxidative stress

Missense variant in the skeletal muscle glycogen-targeting subunit of protein phosphatase 1 (PP1)

Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisphosphonate-related osteonecrosis risk in multiple myeloma

Missense variant in endothelial lipase that tags a regulatory haplotype associated with modestly higher HDL cholesterol through reduced LIPG expression

Estrogen receptor alpha intron variant affecting receptor expression and estrogen sensitivity