rs11466023
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.7 | carrier of a variant related to a mild form of familial Mediterranean fever |
| (T;T) | 2 | mild familial Mediterranean fever |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3249586 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11466023 |
| dbSNP (classic) | rs11466023 |
| ClinGen | rs11466023 |
| ebi | rs11466023 |
| HLI | rs11466023 |
| Exac | rs11466023 |
| Gnomad | rs11466023 |
| Varsome | rs11466023 |
| LitVar | rs11466023 |
| Map | rs11466023 |
| PheGenI | rs11466023 |
| Biobank | rs11466023 |
| 1000 genomes | rs11466023 |
| hgdp | rs11466023 |
| ensembl | rs11466023 |
| geneview | rs11466023 |
| scholar | rs11466023 |
| rs11466023 | |
| pharmgkb | rs11466023 |
| gwascentral | rs11466023 |
| openSNP | rs11466023 |
| 23andMe | rs11466023 |
| SNPshot | rs11466023 |
| SNPdbe | rs11466023 |
| MSV3d | rs11466023 |
| GWAS Ctlg | rs11466023 |
| GMAF | 0.02066 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs11466023, also known as c.1105C>T, p.Pro369Ser or P369S, is a SNP in the MEFV gene. The risk allele is given as (A) by 23andMe, however in dbSNP orientation, the risk allele is (T).
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 | rs11466023(A;A) Rs11466023(T;T) |
| Alt | rs11466023(A;A) Rs11466023(T;T) |
| Reference | Rs11466023(C;C) |
| Significance | Other |
| Disease | Familial Mediterranean fever not specified not provided |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever not specified not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3299586G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002660.6, RCV000215679.4, RCV000416092.1, |
[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 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 18097735] Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.
[PMID 19934105] Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.
