rs28940579
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3.5 | familial Mediterranean fever |
| (C;T) | 3 | Carrier of a familial mediterranean fever mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 3243310 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940579 |
| dbSNP (classic) | rs28940579 |
| ClinGen | rs28940579 |
| ebi | rs28940579 |
| HLI | rs28940579 |
| Exac | rs28940579 |
| Gnomad | rs28940579 |
| Varsome | rs28940579 |
| LitVar | rs28940579 |
| Map | rs28940579 |
| PheGenI | rs28940579 |
| Biobank | rs28940579 |
| 1000 genomes | rs28940579 |
| hgdp | rs28940579 |
| ensembl | rs28940579 |
| geneview | rs28940579 |
| scholar | rs28940579 |
| rs28940579 | |
| pharmgkb | rs28940579 |
| gwascentral | rs28940579 |
| openSNP | rs28940579 |
| 23andMe | rs28940579 |
| SNPshot | rs28940579 |
| SNPdbe | rs28940579 |
| MSV3d | rs28940579 |
| GWAS Ctlg | rs28940579 |
| GMAF | 0.0004591 |
| Max Magnitude | 3.5 |
rs28940579, also known as c.2177T>C, p.Val726Ala or V726A, is a SNP in the MEFV gene. The risk allele is given as (G) by 23andMe, however in dbSNP orientation, the risk allele is (C).
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.
| ClinVar | |
|---|---|
| Risk | rs28940579(A;A) Rs28940579(C;C) |
| Alt | rs28940579(A;A) Rs28940579(C;C) |
| Reference | Rs28940579(T;T) |
| Significance | Pathogenic |
| Disease | Familial Mediterranean fever not provided |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3293310A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002649.2, RCV000220654.2, |
[PMID 19784369
] Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.
[PMID 12401] [X-ray assessment of the motor-evacuatory function of the gastrointestinal tract in the diagnosis of the dumping-syndrome].
[PMID 10024914] Pyrin/marenostrin mutations in familial Mediterranean fever.
[PMID 10737995] The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?
[PMID 11017802] Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.
[PMID 12929299] Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.
[PMID 20041150] Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
