rs3743930
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.1 | some reports of familial Mediterranean fever |
| (C;G) | 1.5 | weakly linked to familial mediterranean fever |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3254626 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3743930 |
| dbSNP (classic) | rs3743930 |
| ClinGen | rs3743930 |
| ebi | rs3743930 |
| HLI | rs3743930 |
| Exac | rs3743930 |
| Gnomad | rs3743930 |
| Varsome | rs3743930 |
| LitVar | rs3743930 |
| Map | rs3743930 |
| PheGenI | rs3743930 |
| Biobank | rs3743930 |
| 1000 genomes | rs3743930 |
| hgdp | rs3743930 |
| ensembl | rs3743930 |
| geneview | rs3743930 |
| scholar | rs3743930 |
| rs3743930 | |
| pharmgkb | rs3743930 |
| gwascentral | rs3743930 |
| openSNP | rs3743930 |
| 23andMe | rs3743930 |
| SNPshot | rs3743930 |
| SNPdbe | rs3743930 |
| MSV3d | rs3743930 |
| GWAS Ctlg | rs3743930 |
| GMAF | 0.08219 |
| Max Magnitude | 2.1 |
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.
| ClinVar | |
|---|---|
| Risk | Rs3743930(C;C) |
| Alt | Rs3743930(C;C) |
| Reference | Rs3743930(G;G) |
| Significance | Other |
| Disease | Familial Mediterranean fever Familial mediterranean fever not specified |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever Familial mediterranean fever, autosomal dominant not specified |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3304626C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002651.8, RCV000002664.3, RCV000218652.3, |
[PMID 19784369
] Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.
[PMID 20041150] Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
[PMID 11484] On the latency and form of the membrane responses of smooth muscle to the iontophoretic application of acetylcholine or carbachol.
[PMID 10980540] MEFV mutations in Behcet's disease.
[PMID 11938447] The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.
[PMID 12929299] Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.
[PMID 16255051] MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.
[PMID 20041150] Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
[PMID 27796522] The association between MEFV gene polymorphisms and Henoch-Schönlein purpura, and additional SNP-SNP interactions in Chinese Han children.
