rs28940578
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3.5 | familial Mediterranean fever |
| (A;G) | 3 | Carrier of a familial mediterranean fever mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 3243405 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940578 |
| dbSNP (classic) | rs28940578 |
| ClinGen | rs28940578 |
| ebi | rs28940578 |
| HLI | rs28940578 |
| Exac | rs28940578 |
| Gnomad | rs28940578 |
| Varsome | rs28940578 |
| LitVar | rs28940578 |
| Map | rs28940578 |
| PheGenI | rs28940578 |
| Biobank | rs28940578 |
| 1000 genomes | rs28940578 |
| hgdp | rs28940578 |
| ensembl | rs28940578 |
| geneview | rs28940578 |
| scholar | rs28940578 |
| rs28940578 | |
| pharmgkb | rs28940578 |
| gwascentral | rs28940578 |
| openSNP | rs28940578 |
| 23andMe | rs28940578 |
| SNPshot | rs28940578 |
| SNPdbe | rs28940578 |
| MSV3d | rs28940578 |
| GWAS Ctlg | rs28940578 |
| Max Magnitude | 3.5 |
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.
| ClinVar | |
|---|---|
| Risk | Rs28940578(A;A) |
| Alt | Rs28940578(A;A) |
| Reference | Rs28940578(G;G) |
| Significance | Pathogenic |
| Disease | Familial Mediterranean fever Familial mediterranean fever not provided |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever Familial mediterranean fever, autosomal dominant not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3293405C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002648.2, RCV000002664.3, RCV000220431.2, |
[PMID 19784369
] Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.
[PMID 17331] A rapid accurate assay for choline kinase.
[PMID 10090880] 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.
[PMID 10364520] 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.
[PMID 19967574] A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.
[PMID 20041150] Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
[PMID 20534143] 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
