rs104895295
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs104895295(A;C) |
| Make rs104895295(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 109574881 |
| Gene | MMAB, MVK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895295 |
| dbSNP (classic) | rs104895295 |
| ClinGen | rs104895295 |
| ebi | rs104895295 |
| HLI | rs104895295 |
| Exac | rs104895295 |
| Gnomad | rs104895295 |
| Varsome | rs104895295 |
| LitVar | rs104895295 |
| Map | rs104895295 |
| PheGenI | rs104895295 |
| Biobank | rs104895295 |
| 1000 genomes | rs104895295 |
| hgdp | rs104895295 |
| ensembl | rs104895295 |
| geneview | rs104895295 |
| scholar | rs104895295 |
| rs104895295 | |
| pharmgkb | rs104895295 |
| gwascentral | rs104895295 |
| openSNP | rs104895295 |
| 23andMe | rs104895295 |
| SNPshot | rs104895295 |
| SNPdbe | rs104895295 |
| MSV3d | rs104895295 |
| GWAS Ctlg | rs104895295 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895295(C;C) |
| Alt | rs104895295(C;C) |
| Reference | Rs104895295(A;A) |
| Significance | Pathogenic |
| Disease | Hyperimmunoglobulin D with periodic fever Mevalonic aciduria |
| Variation | info |
| Gene | MVK MMAB |
| CLNDBN | Hyperimmunoglobulin D with periodic fever Mevalonic aciduria |
| Reversed | 0 |
| HGVS | NC_000012.11:g.110012686A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012707.19, RCV000012708.18, |
[PMID 11313768] Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
[PMID 11313769] Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
