rs967404590
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 1401344 |
| Gene | GAMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs967404590 |
| dbSNP (classic) | rs967404590 |
| ClinGen | rs967404590 |
| ebi | rs967404590 |
| HLI | rs967404590 |
| Exac | rs967404590 |
| Gnomad | rs967404590 |
| Varsome | rs967404590 |
| LitVar | rs967404590 |
| Map | rs967404590 |
| PheGenI | rs967404590 |
| Biobank | rs967404590 |
| 1000 genomes | rs967404590 |
| hgdp | rs967404590 |
| ensembl | rs967404590 |
| geneview | rs967404590 |
| scholar | rs967404590 |
| rs967404590 | |
| pharmgkb | rs967404590 |
| gwascentral | rs967404590 |
| openSNP | rs967404590 |
| 23andMe | rs967404590 |
| SNPshot | rs967404590 |
| SNPdbe | rs967404590 |
| MSV3d | rs967404590 |
| GWAS Ctlg | rs967404590 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs967404590(T;T) |
| Alt | rs967404590(T;T) |
| Reference | Rs967404590(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of guanidinoacetate methyltransferase |
| Variation | info |
| Gene | |
| CLNDBN | Deficiency of guanidinoacetate methyltransferase |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1401343A>T |
| CLNSRC | |
| CLNACC | RCV000389374.1, |
