rs104895094
From SNPedia
| 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, autosomal recessive |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 3243403 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895094 |
| dbSNP (classic) | rs104895094 |
| ClinGen | rs104895094 |
| ebi | rs104895094 |
| HLI | rs104895094 |
| Exac | rs104895094 |
| Gnomad | rs104895094 |
| Varsome | rs104895094 |
| LitVar | rs104895094 |
| Map | rs104895094 |
| PheGenI | rs104895094 |
| Biobank | rs104895094 |
| 1000 genomes | rs104895094 |
| hgdp | rs104895094 |
| ensembl | rs104895094 |
| geneview | rs104895094 |
| scholar | rs104895094 |
| rs104895094 | |
| pharmgkb | rs104895094 |
| gwascentral | rs104895094 |
| openSNP | rs104895094 |
| 23andMe | rs104895094 |
| SNPshot | rs104895094 |
| SNPdbe | rs104895094 |
| MSV3d | rs104895094 |
| GWAS Ctlg | rs104895094 |
| GMAF | 0.003214 |
| Max Magnitude | 5 |
rs104895094, also known as c.2084A>G, p.Lys695Arg or K695R, is a SNP in the MEFV gene. The risk allele is given as (C) by 23andMe, however in dbSNP orientation, the risk allele is (G).
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 | Rs104895094(G;G) rs104895094(T;T) |
| Alt | Rs104895094(G;G) rs104895094(T;T) |
| Reference | Rs104895094(A;A) |
| Significance | Other |
| Disease | Familial Mediterranean fever not provided Familial mediterranean fever Abnormality of the teeth Cachexia Intermittent diarrhea Peripheral neuropathy Syncope Urticaria |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever not provided Familial mediterranean fever, autosomal dominant Abnormality of the teeth Cachexia Intermittent diarrhea Peripheral neuropathy Syncope Urticaria |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3293403T>A; NC_000016.9:g.3293403T>C |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000083741.1, RCV000002656.5, RCV000196026.1, RCV000213470.2, RCV000349323.1, RCV000415431.1, |
[PMID 9668175] Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
