rs61732874
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | familial mediterranean fever |
| (A;C) | 3 | Carrier of a familial mediterranean fever mutation |
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3243257 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61732874 |
| dbSNP (classic) | rs61732874 |
| ClinGen | rs61732874 |
| ebi | rs61732874 |
| HLI | rs61732874 |
| Exac | rs61732874 |
| Gnomad | rs61732874 |
| Varsome | rs61732874 |
| LitVar | rs61732874 |
| Map | rs61732874 |
| PheGenI | rs61732874 |
| Biobank | rs61732874 |
| 1000 genomes | rs61732874 |
| hgdp | rs61732874 |
| ensembl | rs61732874 |
| geneview | rs61732874 |
| scholar | rs61732874 |
| rs61732874 | |
| pharmgkb | rs61732874 |
| gwascentral | rs61732874 |
| openSNP | rs61732874 |
| 23andMe | rs61732874 |
| SNPshot | rs61732874 |
| SNPdbe | rs61732874 |
| MSV3d | rs61732874 |
| GWAS Ctlg | rs61732874 |
| GMAF | 0.001377 |
| Max Magnitude | 5 |
rs61732874, also known as c.2230G>T, p.Ala744Ser or A744S, is a SNP in the MEFV gene. The equivalent SNP for 23andMe is i4000409.
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 | Rs61732874(A;A) rs61732874(T;T) |
| Alt | Rs61732874(A;A) rs61732874(T;T) |
| Reference | Rs61732874(C;C) |
| Significance | Other |
| Disease | Familial Mediterranean fever not provided |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.3293257C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002657.8, RCV000196026.1, RCV000213702.2, |
[PMID 20041150
] Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
[PMID 9668175] Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
[PMID 166149] Possible intervention of insulin, cyclic AMP, and glucocorticoids in protein-sparing action of dietary carbohydrate in rats.
[PMID 14578331] Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.
[PMID 16439335] Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
[PMID 17566872] MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center.
