There is some evidence for a founder effect as the frequency of R336C (0.24%) is higher in the Icelandic population than in any other population with a reported frequency. In the ExAC Browser (www.exac.broadinstitute.org), 31 carriers of R336C are reported in non-Finnish European populations, indicating an allele frequency of 0.046%. The variant was not detected in Asian or Latino populations, and 2 carriers from African populations (f=0.019%) are reported.
