rs61752717
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a familial mediterranean fever mutation |
| (G;G) | 5 | familial mediterranean fever |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 3243407 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61752717 |
| dbSNP (classic) | rs61752717 |
| ClinGen | rs61752717 |
| ebi | rs61752717 |
| HLI | rs61752717 |
| Exac | rs61752717 |
| Gnomad | rs61752717 |
| Varsome | rs61752717 |
| LitVar | rs61752717 |
| Map | rs61752717 |
| PheGenI | rs61752717 |
| Biobank | rs61752717 |
| 1000 genomes | rs61752717 |
| hgdp | rs61752717 |
| ensembl | rs61752717 |
| geneview | rs61752717 |
| scholar | rs61752717 |
| rs61752717 | |
| pharmgkb | rs61752717 |
| gwascentral | rs61752717 |
| openSNP | rs61752717 |
| 23andMe | rs61752717 |
| SNPshot | rs61752717 |
| SNPdbe | rs61752717 |
| MSV3d | rs61752717 |
| GWAS Ctlg | rs61752717 |
| Max Magnitude | 5 |
rs61752717, also known as c.2080A>G, p.Met694Val or M694V, is a SNP in the MEFV gene. The minor (G) allele is considered pathogenic by numerous sources including ClinVar for Familial Mediterranean Fever (FMF) when inherited in two copies or as a compound heterozygote.
rs61752717(G;G) individuals tend to have an earlier age of onset and higher frequencies of arthritis and arthralgia than persons carrying other pathogenic FMF variants.[PMID 15643295]
A significant association has lalso been identified between rs61752717(G) and the development of amyloidosis, especially in those who are homozygous for this pathogenic variant.[PMID 18353061],[PMID 20008920]
| ClinVar | |
|---|---|
| Risk | Rs61752717(G;G) rs61752717(T;T) |
| Alt | Rs61752717(G;G) rs61752717(T;T) |
| Reference | Rs61752717(A;A) |
| Significance | Pathogenic |
| Disease | Familial Mediterranean fever not provided |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3293407T>A; NC_000016.9:g.3293407T>C |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000083739.1, RCV000002647.3, RCV000216751.2, |
[PMID 19784369
] Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.
[PMID 19790133] Familial mediterranean Fever in the world.
