rs104895317
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104895317(A;A) |
| Make rs104895317(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 109595142 |
| Gene | MVK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895317 |
| dbSNP (classic) | rs104895317 |
| ClinGen | rs104895317 |
| ebi | rs104895317 |
| HLI | rs104895317 |
| Exac | rs104895317 |
| Gnomad | rs104895317 |
| Varsome | rs104895317 |
| LitVar | rs104895317 |
| Map | rs104895317 |
| PheGenI | rs104895317 |
| Biobank | rs104895317 |
| 1000 genomes | rs104895317 |
| hgdp | rs104895317 |
| ensembl | rs104895317 |
| geneview | rs104895317 |
| scholar | rs104895317 |
| rs104895317 | |
| pharmgkb | rs104895317 |
| gwascentral | rs104895317 |
| openSNP | rs104895317 |
| 23andMe | rs104895317 |
| SNPshot | rs104895317 |
| SNPdbe | rs104895317 |
| MSV3d | rs104895317 |
| GWAS Ctlg | rs104895317 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895317(A;A) |
| Alt | rs104895317(A;A) |
| Reference | Rs104895317(G;G) |
| Significance | Pathogenic |
| Disease | Mevalonic aciduria Hyperimmunoglobulin D with periodic fever |
| Variation | info |
| Gene | MVK |
| CLNDBN | Mevalonic aciduria Hyperimmunoglobulin D with periodic fever |
| Reversed | 0 |
| HGVS | NC_000012.11:g.110032947G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012706.27, RCV000074422.22, |
[PMID 9334262] Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
