rs104895083
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a familial mediterranean fever mutation |
| Make rs104895083(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3247166 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895083 |
| dbSNP (classic) | rs104895083 |
| ClinGen | rs104895083 |
| ebi | rs104895083 |
| HLI | rs104895083 |
| Exac | rs104895083 |
| Gnomad | rs104895083 |
| Varsome | rs104895083 |
| LitVar | rs104895083 |
| Map | rs104895083 |
| PheGenI | rs104895083 |
| Biobank | rs104895083 |
| 1000 genomes | rs104895083 |
| hgdp | rs104895083 |
| ensembl | rs104895083 |
| geneview | rs104895083 |
| scholar | rs104895083 |
| rs104895083 | |
| pharmgkb | rs104895083 |
| gwascentral | rs104895083 |
| openSNP | rs104895083 |
| 23andMe | rs104895083 |
| SNPshot | rs104895083 |
| SNPdbe | rs104895083 |
| MSV3d | rs104895083 |
| GWAS Ctlg | rs104895083 |
| Max Magnitude | 3 |
rs104895083, also known as F479L, is a SNP in the MEFV gene. The equivalent SNP for 23andMe is i4000403.
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 | rs104895083(A;A) rs104895083(G;G) |
| Alt | rs104895083(A;A) rs104895083(G;G) |
| Reference | Rs104895083(C;C) |
| Significance | Pathogenic |
| Disease | Familial Mediterranean fever |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3297166G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002654.4, |
[PMID 9668175] Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
