rs28940578
A SNP in the MEFV gene on chromosome 16. Its most notable genotype is T;T: familial Mediterranean fever
- Gene
- MEFV
- Location
- Chr 163,243,405 (GRCh38)
- Highest magnitude
- 3.5Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadfamilial Mediterranean fever
- C;TBadCarrier of a familial mediterranean fever mutation
- C;CGoodcommon in clinvar
SNPedia records rs28940578 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MEFV SNPs
- i4000404T;TFamilial Mediterranean FeverVery important
- i4000406C;Cfamilial mediterranean feverVery important
- i4000410T;Tfamilial mediterranean feverVery important
- rs28940580C;GFamilial mediterranean fever (predicted)Very important
- rs61732874A;Afamilial mediterranean feverVery important
- rs61752717C;Cfamilial mediterranean feverVery important
- rs104895093-;-Familial Mediterranean FeverVery important
- rs104895094C;CFamilial Mediterranean Fever, autosomal recessiveVery important
Notes
From SNPedia
Show notes, about 240 words
rs28940578, also known as c.2082G>A, p.Met694Ile or M694I, is a SNP in the MEFV gene. The risk allele is given as (T) by 23andMe, however in dbSNP orientation, the risk allele is (A). The symptoms of familial Mediterranean fever are caused by the person's own inflammatory response; it is not an infectious disease. The condition is more common among Turks, Sephardic Jews, and people of Arab and Armenian ancestry. Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis. A rapid accurate assay for choline kinase. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan. Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels. 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
C;T
Familial Mediterranean Fever mutation carrier; unaffected unless a second MEFV gene mutation is present.
Source and license
Adapted from rs28940578 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.