rs121907890
From SNPedia
| Merged into | rs104895093 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5 | Familial Mediterranean Fever |
| (-;ATA) | 3 | carrier of a familial mediterranean fever allele |
| (AAT;AAT) | 0 | common in clinvar |
| (ATA;ATA) | 0 | common in complete genomics |
| (TAA;TAA) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3243411 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121907890 |
| dbSNP (classic) | rs121907890 |
| ClinGen | rs121907890 |
| ebi | rs121907890 |
| HLI | rs121907890 |
| Exac | rs121907890 |
| Gnomad | rs121907890 |
| Varsome | rs121907890 |
| LitVar | rs121907890 |
| Map | rs121907890 |
| PheGenI | rs121907890 |
| Biobank | rs121907890 |
| 1000 genomes | rs121907890 |
| hgdp | rs121907890 |
| ensembl | rs121907890 |
| geneview | rs121907890 |
| scholar | rs121907890 |
| rs121907890 | |
| pharmgkb | rs121907890 |
| gwascentral | rs121907890 |
| openSNP | rs121907890 |
| 23andMe | rs121907890 |
| SNPshot | rs121907890 |
| SNPdbe | rs121907890 |
| MSV3d | rs121907890 |
| GWAS Ctlg | rs121907890 |
| Status | Merged into rs104895093 |
| Max Magnitude | 5 |
rs121907890, also known as c.2074_2076delATA, is a SNP in the MEFV gene.
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 | |
| Alt | |
| Reference | Rs121907890(AAT;AAT) |
| Significance | Pathogenic |
| Disease | Familial Mediterranean fever |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial Mediterranean fever |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3293409_3293411delATT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000083737.4, |
