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Familial Mediterranean Fever

From SNPedia

Familial Mediterranean Fever is an inherited disorder found among people with Mediterranean ancestry, mostly Turks, Sephardic Jews, Armenians, and Arab populations. Wikipedia

The symptoms are caused by the person's own inflammatory response, not an infection. Attacks usually involve fever accompanied by other symptoms such as abdominal pain. Over time, the person may develop damage to the joints and to the kidneys and other organs.

23andMe tests for SNPs in the MEFV gene that are associated with a recessive form of familial Mediterranean fever:

  • rs61752717 or i4000406, also known as M694V (risk allele G in dbSNP & SNPedia orientation)
  • rs28940579, also known as V726A (risk allele C in dbSNP & SNPedia orientation)
  • rs28940580, also known as M680I C>G (risk alleles A and C in dbSNP & SNPedia orientation)
  • rs28940578, also known as M694I (risk allele A in dbSNP & SNPedia orientation)
  • rs61732874 or i4000409, also known as A744S (risk allele A)
  • rs104895083 or i4000403, also known as F479L (risk allele G in dbSNP & SNPedia orientation)
  • rs104895097 or i4000410, also known as R761H (risk allele A dbSNP & SNPedia orientation)
  • rs104895085 or i4000404, also known as R653H (risk allele A in dbSNP & SNPedia orientation)
  • rs121907890, also known as Ile692del (risk allele deletes ATA in dbSNP & SNPedia orientation)
  • rs104895093, also known as Ile692del (risk allele deletes AAT in dbSNP & SNPedia orientation)


Tested by 23andMe but stated as unclear if they actually cause FMF:

  • rs104895094 or i4000407, also known as K695R (risk allele C)
  • rs3743930, also known as E148Q (risk allele C in dbSNP & SNPedia orientation)
  • rs11466023, also known as P369S (risk allele T in dbSNP & SNPedia orientation)

Discussion at 23andMe https://www.23andme.com/you/community/thread/7962/