rs864309731
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
| (G;G) | 0 | common in clinvar |
| Make rs864309731(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 4 |
| Position | 145655253 |
| Gene | MMAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864309731 |
| dbSNP (classic) | rs864309731 |
| ClinGen | rs864309731 |
| ebi | rs864309731 |
| HLI | rs864309731 |
| Exac | rs864309731 |
| Gnomad | rs864309731 |
| Varsome | rs864309731 |
| LitVar | rs864309731 |
| Map | rs864309731 |
| PheGenI | rs864309731 |
| Biobank | rs864309731 |
| 1000 genomes | rs864309731 |
| hgdp | rs864309731 |
| ensembl | rs864309731 |
| geneview | rs864309731 |
| scholar | rs864309731 |
| rs864309731 | |
| pharmgkb | rs864309731 |
| gwascentral | rs864309731 |
| openSNP | rs864309731 |
| 23andMe | rs864309731 |
| SNPshot | rs864309731 |
| SNPdbe | rs864309731 |
| MSV3d | rs864309731 |
| GWAS Ctlg | rs864309731 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs864309731(A;A) |
| Alt | rs864309731(A;A) |
| Reference | Rs864309731(G;G) |
| Significance | Pathogenic |
| Disease | Methylmalonic aciduria cblA type |
| Variation | info |
| Gene | MMAA |
| CLNDBN | Methylmalonic aciduria cblA type |
| Reversed | 0 |
| HGVS | NC_000004.11:g.146576405G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000203388.1, |
