rs764618040
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs764618040(C;T) |
| Make rs764618040(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 119726868 |
| Gene | LOC105378936, PHGDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764618040 |
| dbSNP (classic) | rs764618040 |
| ClinGen | rs764618040 |
| ebi | rs764618040 |
| HLI | rs764618040 |
| Exac | rs764618040 |
| Gnomad | rs764618040 |
| Varsome | rs764618040 |
| LitVar | rs764618040 |
| Map | rs764618040 |
| PheGenI | rs764618040 |
| Biobank | rs764618040 |
| 1000 genomes | rs764618040 |
| hgdp | rs764618040 |
| ensembl | rs764618040 |
| geneview | rs764618040 |
| scholar | rs764618040 |
| rs764618040 | |
| pharmgkb | rs764618040 |
| gwascentral | rs764618040 |
| openSNP | rs764618040 |
| 23andMe | rs764618040 |
| SNPshot | rs764618040 |
| SNPdbe | rs764618040 |
| MSV3d | rs764618040 |
| GWAS Ctlg | rs764618040 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs764618040(T;T) |
| Alt | rs764618040(T;T) |
| Reference | Rs764618040(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Epileptic encephalopathy Seizures |
| Variation | info |
| Gene | PHGDH |
| CLNDBN | Epileptic encephalopathy Seizures |
| Reversed | 0 |
| HGVS | NC_000001.10:g.120269491C>T |
| CLNSRC | |
| CLNACC | RCV000414985.1, |
