rs727504022
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.8 | Methylmalonic aciduria (predicted) |
| (A;G) | 3 | Carrier for a methylmalonic aciduria mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 49459187 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727504022 |
| dbSNP (classic) | rs727504022 |
| ClinGen | rs727504022 |
| ebi | rs727504022 |
| HLI | rs727504022 |
| Exac | rs727504022 |
| Gnomad | rs727504022 |
| Varsome | rs727504022 |
| LitVar | rs727504022 |
| Map | rs727504022 |
| PheGenI | rs727504022 |
| Biobank | rs727504022 |
| 1000 genomes | rs727504022 |
| hgdp | rs727504022 |
| ensembl | rs727504022 |
| geneview | rs727504022 |
| scholar | rs727504022 |
| rs727504022 | |
| pharmgkb | rs727504022 |
| gwascentral | rs727504022 |
| openSNP | rs727504022 |
| 23andMe | rs727504022 |
| SNPshot | rs727504022 |
| SNPdbe | rs727504022 |
| MSV3d | rs727504022 |
| GWAS Ctlg | rs727504022 |
| Max Magnitude | 8.8 |
aka c.280G>A, p.Gly94Arg or G94R; mutation seen in Hispanics
| ClinVar | |
|---|---|
| Risk | Rs727504022(A;A) |
| Alt | Rs727504022(A;A) |
| Reference | Rs727504022(G;G) |
| Significance | Pathogenic |
| Disease | not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Variation | info |
| Gene | MUT |
| CLNDBN | not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Reversed | 1 |
| HGVS | NC_000006.11:g.49426900C>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000153522.2, RCV000175567.1, |
