rs571038432
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
| Make rs571038432(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 4 |
| Position | 145655165 |
| Gene | MMAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs571038432 |
| dbSNP (classic) | rs571038432 |
| ClinGen | rs571038432 |
| ebi | rs571038432 |
| HLI | rs571038432 |
| Exac | rs571038432 |
| Gnomad | rs571038432 |
| Varsome | rs571038432 |
| LitVar | rs571038432 |
| Map | rs571038432 |
| PheGenI | rs571038432 |
| Biobank | rs571038432 |
| 1000 genomes | rs571038432 |
| hgdp | rs571038432 |
| ensembl | rs571038432 |
| geneview | rs571038432 |
| scholar | rs571038432 |
| rs571038432 | |
| pharmgkb | rs571038432 |
| gwascentral | rs571038432 |
| openSNP | rs571038432 |
| 23andMe | rs571038432 |
| SNPshot | rs571038432 |
| SNPdbe | rs571038432 |
| MSV3d | rs571038432 |
| GWAS Ctlg | rs571038432 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs571038432(T;T) |
| Alt | rs571038432(T;T) |
| Reference | Rs571038432(C;C) |
| Significance | Pathogenic |
| Disease | not provided Methylmalonic aciduria cblA type |
| Variation | info |
| Gene | MMAA |
| CLNDBN | not provided Methylmalonic aciduria cblA type |
| Reversed | 0 |
| HGVS | NC_000004.11:g.146576317C>T |
| CLNSRC | |
| CLNACC | RCV000186014.2, RCV000203343.1, |
