rs28940580
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3.5 | familial Mediterranean fever |
| (A;C) | 3.5 | familial Mediterranean fever |
| (A;G) | 3 | Carrier of a familial mediterranean fever mutation |
| (C;C) | 1.5 | can be ignored for now |
| (C;G) | 5 | Familial mediterranean fever (predicted) |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3243447 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940580 |
| dbSNP (classic) | rs28940580 |
| ClinGen | rs28940580 |
| ebi | rs28940580 |
| HLI | rs28940580 |
| Exac | rs28940580 |
| Gnomad | rs28940580 |
| Varsome | rs28940580 |
| LitVar | rs28940580 |
| Map | rs28940580 |
| PheGenI | rs28940580 |
| Biobank | rs28940580 |
| 1000 genomes | rs28940580 |
| hgdp | rs28940580 |
| ensembl | rs28940580 |
| geneview | rs28940580 |
| scholar | rs28940580 |
| rs28940580 | |
| pharmgkb | rs28940580 |
| gwascentral | rs28940580 |
| openSNP | rs28940580 |
| 23andMe | rs28940580 |
| SNPshot | rs28940580 |
| SNPdbe | rs28940580 |
| MSV3d | rs28940580 |
| GWAS Ctlg | rs28940580 |
| Max Magnitude | 5 |
rs28940580, also known as c.2040G>C, p.Met680Ile or M680I, 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 | Rs28940580(A;A) Rs28940580(C;C) rs28940580(T;T) |
| Alt | Rs28940580(A;A) Rs28940580(C;C) rs28940580(T;T) |
| Reference | Rs28940580(G;G) |
| Significance | Pathogenic |
| Disease | not provided Familial Mediterranean fever |
| Variation | info |
| Gene | MEFV |
| CLNDBN | not provided Familial Mediterranean fever |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3293447C>A; NC_000016.9:g.3293447C>G; NC_000016.9:g.3293447C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000220209.1, RCV000030179.2, RCV000222364.3, RCV000002659.2, RCV000216518.2, |
[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 12105243] Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.
[PMID 16439335] Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
[PMID 27796522] The association between MEFV gene polymorphisms and Henoch-Schönlein purpura, and additional SNP-SNP interactions in Chinese Han children.
