Salvo, Nina Mjølsnes; Mathisen, Marie Gule; Janssen, Kirstin; Berg, Thomas; Olsen, Gunn-Hege (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-10-18)
The regulatory HERC2 SNP, rs12913832, is strongly associated with blue and brown eye colour. However, eye
colour in heterozygous rs12913832 individuals is observed to vary greatly. Missense mutations in OCA2, such as
rs1800407 and rs74653330, are associated with lighter eye colour in some but not all heterozygous rs12913832
individuals. Determining the physical linkage of these variants might ...