Rs3788853

A form of this snp, located upstream of the XPNPEP2 gene on the X chromosome, may cause susceptibility to skin swelling when taking medicines called ACE Inhibitors.

Also known as -2399C/A in the literature; however in SNPedia, where the orientation of the corresponding dbSNP entry is recognized as primary, this is G/T. After noticing the association of this SNP with the phenotype, the authors genotyped 20 independent AE-ACEi cases and 60 unrelated, matching controls for this SNP. The T allele was present in 8 of the 20 AE patients; and by allele counting, the T allele was found at a frequency of 11.1% in the control population and 27.3% in their AE-ACEi cases.
 * See also OMIM 300145


 * is_associated_with_disease::Angioedema