rs3743930
A SNP in the MEFV gene on chromosome 16. Its most notable genotype is G;G: some reports of familial Mediterranean fever
- Gene
- MEFV
- Location
- Chr 163,254,626 (GRCh38)
- Highest magnitude
- 2.1Worth knowing
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 8%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadsome reports of familial Mediterranean fever
- C;GBadweakly linked to familial mediterranean fever
- C;CGoodcommon in clinvar
SNPedia records rs3743930 on the minus strand: (C;C), (C;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 220 words
rs3743930, also known as c.442G>C, p.Glu148Gln or E148Q, is a SNP in the MEFV gene. 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. Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels. On the latency and form of the membrane responses of smooth muscle to the iontophoretic application of acetylcholine or carbachol. MEFV mutations in Behcet's disease. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
G;G
but observed in User:Razib with no ill effects. note the minus strand
C;G
You're a carrier, but this SNP seems not to have any obvious negative consequences.
Source and license
Adapted from rs3743930 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.