rs886054247
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Chromosome | 19 |
| Position | 1401344 |
| Gene | GAMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886054247 |
| dbSNP (classic) | rs886054247 |
| ClinGen | rs886054247 |
| ebi | rs886054247 |
| HLI | rs886054247 |
| Exac | rs886054247 |
| Gnomad | rs886054247 |
| Varsome | rs886054247 |
| LitVar | rs886054247 |
| Map | rs886054247 |
| PheGenI | rs886054247 |
| Biobank | rs886054247 |
| 1000 genomes | rs886054247 |
| hgdp | rs886054247 |
| ensembl | rs886054247 |
| geneview | rs886054247 |
| scholar | rs886054247 |
| rs886054247 | |
| pharmgkb | rs886054247 |
| gwascentral | rs886054247 |
| openSNP | rs886054247 |
| 23andMe | rs886054247 |
| SNPshot | rs886054247 |
| SNPdbe | rs886054247 |
| MSV3d | rs886054247 |
| GWAS Ctlg | rs886054247 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886054247(A;A) |
| Alt | rs886054247(A;A) |
| Reference | Rs886054247(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of guanidinoacetate methyltransferase |
| Variation | info |
| Gene | GAMT |
| CLNDBN | Deficiency of guanidinoacetate methyltransferase |
| Reversed | 1 |
| HGVS | NC_000019.9:g.1401343A>T |
| CLNSRC | Illumina |
| CLNACC | RCV000389374.1, |
