rs370421531
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs370421531(C;T) |
| Make rs370421531(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 19 |
| Position | 1398964 |
| Gene | GAMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370421531 |
| dbSNP (classic) | rs370421531 |
| ClinGen | rs370421531 |
| ebi | rs370421531 |
| HLI | rs370421531 |
| Exac | rs370421531 |
| Gnomad | rs370421531 |
| Varsome | rs370421531 |
| LitVar | rs370421531 |
| Map | rs370421531 |
| PheGenI | rs370421531 |
| Biobank | rs370421531 |
| 1000 genomes | rs370421531 |
| hgdp | rs370421531 |
| ensembl | rs370421531 |
| geneview | rs370421531 |
| scholar | rs370421531 |
| rs370421531 | |
| pharmgkb | rs370421531 |
| gwascentral | rs370421531 |
| openSNP | rs370421531 |
| 23andMe | rs370421531 |
| SNPshot | rs370421531 |
| SNPdbe | rs370421531 |
| MSV3d | rs370421531 |
| GWAS Ctlg | rs370421531 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370421531(T;T) |
| Alt | rs370421531(T;T) |
| Reference | Rs370421531(C;C) |
| Significance | Pathogenic |
| Disease | not provided Deficiency of guanidinoacetate methyltransferase |
| Variation | info |
| Gene | GAMT |
| CLNDBN | not provided Deficiency of guanidinoacetate methyltransferase |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1398963C>T |
| CLNSRC | |
| CLNACC | RCV000187569.1, RCV000316896.1, |
