rs12918964
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs12918964(C;T) |
| Make rs12918964(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 47698565 |
| Gene | PHKB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12918964 |
| dbSNP (classic) | rs12918964 |
| ClinGen | rs12918964 |
| ebi | rs12918964 |
| HLI | rs12918964 |
| Exac | rs12918964 |
| Gnomad | rs12918964 |
| Varsome | rs12918964 |
| LitVar | rs12918964 |
| Map | rs12918964 |
| PheGenI | rs12918964 |
| Biobank | rs12918964 |
| 1000 genomes | rs12918964 |
| hgdp | rs12918964 |
| ensembl | rs12918964 |
| geneview | rs12918964 |
| scholar | rs12918964 |
| rs12918964 | |
| pharmgkb | rs12918964 |
| gwascentral | rs12918964 |
| openSNP | rs12918964 |
| 23andMe | rs12918964 |
| SNPshot | rs12918964 |
| SNPdbe | rs12918964 |
| MSV3d | rs12918964 |
| GWAS Ctlg | rs12918964 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs12918964(T;T) |
| Alt | rs12918964(T;T) |
| Reference | Rs12918964(C;C) |
| Significance | Non-pathogenic |
| Disease | Glycogen phosphorylase kinase deficiency not specified |
| Variation | info |
| Gene | PHKB |
| CLNDBN | Glycogen phosphorylase kinase deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000016.9:g.47732476C>T |
| CLNSRC | |
| CLNACC | RCV000380256.1, RCV000429403.1, |
