rs869312823
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs869312823(A;G) |
| Make rs869312823(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 1806509 |
| Gene | GNB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869312823 |
| dbSNP (classic) | rs869312823 |
| ClinGen | rs869312823 |
| ebi | rs869312823 |
| HLI | rs869312823 |
| Exac | rs869312823 |
| Gnomad | rs869312823 |
| Varsome | rs869312823 |
| LitVar | rs869312823 |
| Map | rs869312823 |
| PheGenI | rs869312823 |
| Biobank | rs869312823 |
| 1000 genomes | rs869312823 |
| hgdp | rs869312823 |
| ensembl | rs869312823 |
| geneview | rs869312823 |
| scholar | rs869312823 |
| rs869312823 | |
| pharmgkb | rs869312823 |
| gwascentral | rs869312823 |
| openSNP | rs869312823 |
| 23andMe | rs869312823 |
| SNPshot | rs869312823 |
| SNPdbe | rs869312823 |
| MSV3d | rs869312823 |
| GWAS Ctlg | rs869312823 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs869312823(G;G) |
| Alt | rs869312823(G;G) |
| Reference | Rs869312823(A;A) |
| Significance | Pathogenic |
| Disease | EEG with generalized epileptiform discharges Feeding difficulties Global developmental delay Growth delay Infantile muscular hypotonia Muscular hypotonia Seizures Strabismus Mental retardation |
| Variation | info |
| Gene | GNB1 |
| CLNDBN | EEG with generalized epileptiform discharges Feeding difficulties Global developmental delay Growth delay Infantile muscular hypotonia Muscular hypotonia Seizures Strabismus Mental retardation, autosomal dominant 42 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.1737948T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000210269.1, RCV000225134.2, |
