|| common in clinvar
|| familial mediterranean fever
|| Carrier of a familial mediterranean fever mutation
rs61752717, also known as c.2080A>G, p.Met694Val or M694V, is a SNP in the MEFV gene. The minor (G) allele is considered pathogenic by numerous sources including ClinVar for Familial Mediterranean Fever (FMF) when inherited in two copies or as a compound heterozygote.
rs61752717(G;G) individuals tend to have an earlier age of onset and higher frequencies of arthritis and arthralgia than persons carrying other pathogenic FMF variants.[PMID 15643295]
A significant association has lalso been identified between rs61752717(G) and the development of amyloidosis, especially in those who are homozygous for this pathogenic variant.[PMID 18353061],[PMID 20008920]
[PMID 19784369] Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.
[PMID 19790133] Familial mediterranean Fever in the world.