• Experimental long-distance haplotyping of OCA2-HERC2 variants 

      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 ...