rs140356252
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
| (T;T) | 0 | common in clinvar |
| Make rs140356252(C;C) |
| Make rs140356252(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 4 |
| Position | 145646073 |
| Gene | MMAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140356252 |
| dbSNP (classic) | rs140356252 |
| ClinGen | rs140356252 |
| ebi | rs140356252 |
| HLI | rs140356252 |
| Exac | rs140356252 |
| Gnomad | rs140356252 |
| Varsome | rs140356252 |
| LitVar | rs140356252 |
| Map | rs140356252 |
| PheGenI | rs140356252 |
| Biobank | rs140356252 |
| 1000 genomes | rs140356252 |
| hgdp | rs140356252 |
| ensembl | rs140356252 |
| geneview | rs140356252 |
| scholar | rs140356252 |
| rs140356252 | |
| pharmgkb | rs140356252 |
| gwascentral | rs140356252 |
| openSNP | rs140356252 |
| 23andMe | rs140356252 |
| SNPshot | rs140356252 |
| SNPdbe | rs140356252 |
| MSV3d | rs140356252 |
| GWAS Ctlg | rs140356252 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs140356252(A;A) rs140356252(C;C) |
| Alt | rs140356252(A;A) rs140356252(C;C) |
| Reference | Rs140356252(T;T) |
| Significance | Pathogenic |
| Disease | Methylmalonic aciduria cblA type |
| Variation | info |
| Gene | MMAA |
| CLNDBN | Methylmalonic aciduria cblA type |
| Reversed | 0 |
| HGVS | NC_000004.11:g.146567225T>A |
| CLNSRC | |
| CLNACC | RCV000203334.1, |
