rs11466024
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | benign |
| (A;G) | 1 | benign |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3249468 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11466024 |
| dbSNP (classic) | rs11466024 |
| ClinGen | rs11466024 |
| ebi | rs11466024 |
| HLI | rs11466024 |
| Exac | rs11466024 |
| Gnomad | rs11466024 |
| Varsome | rs11466024 |
| LitVar | rs11466024 |
| Map | rs11466024 |
| PheGenI | rs11466024 |
| Biobank | rs11466024 |
| 1000 genomes | rs11466024 |
| hgdp | rs11466024 |
| ensembl | rs11466024 |
| geneview | rs11466024 |
| scholar | rs11466024 |
| rs11466024 | |
| pharmgkb | rs11466024 |
| gwascentral | rs11466024 |
| openSNP | rs11466024 |
| 23andMe | rs11466024 |
| SNPshot | rs11466024 |
| SNPdbe | rs11466024 |
| MSV3d | rs11466024 |
| GWAS Ctlg | rs11466024 |
| GMAF | 0.01653 |
| Max Magnitude | 1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs11466024(A;A) |
| Alt | Rs11466024(A;A) |
| Reference | Rs11466024(G;G) |
| 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.3299468C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002661.6, RCV000218029.4, RCV000224408.1, |
[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 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 20534143] 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
