rs104895091
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TGA) | 3 | Carrier of a familial mediterranean fever mutation |
| (TGA;TGA) | 0 | common in clinvar |
| Make rs104895091(-;-) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 3243404 |
| Gene | MEFV |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895091 |
| dbSNP (classic) | rs104895091 |
| ClinGen | rs104895091 |
| ebi | rs104895091 |
| HLI | rs104895091 |
| Exac | rs104895091 |
| Gnomad | rs104895091 |
| Varsome | rs104895091 |
| LitVar | rs104895091 |
| Map | rs104895091 |
| PheGenI | rs104895091 |
| Biobank | rs104895091 |
| 1000 genomes | rs104895091 |
| hgdp | rs104895091 |
| ensembl | rs104895091 |
| geneview | rs104895091 |
| scholar | rs104895091 |
| rs104895091 | |
| pharmgkb | rs104895091 |
| gwascentral | rs104895091 |
| openSNP | rs104895091 |
| 23andMe | rs104895091 |
| SNPshot | rs104895091 |
| SNPdbe | rs104895091 |
| MSV3d | rs104895091 |
| GWAS Ctlg | rs104895091 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs104895091(-;-) |
| Alt | rs104895091(-;-) |
| Reference | Rs104895091(TGA;TGA) |
| Significance | Pathogenic |
| Disease | Familial mediterranean fever Familial Mediterranean fever |
| Variation | info |
| Gene | MEFV |
| CLNDBN | Familial mediterranean fever, autosomal dominant Familial Mediterranean fever |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3293404_3293406delTCA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002665.3, RCV000083740.1, |
