rs786203999
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs786203999(C;G) |
| Make rs786203999(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 46906858 |
| Gene | GPT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786203999 |
| dbSNP (classic) | rs786203999 |
| ClinGen | rs786203999 |
| ebi | rs786203999 |
| HLI | rs786203999 |
| Exac | rs786203999 |
| Gnomad | rs786203999 |
| Varsome | rs786203999 |
| LitVar | rs786203999 |
| Map | rs786203999 |
| PheGenI | rs786203999 |
| Biobank | rs786203999 |
| 1000 genomes | rs786203999 |
| hgdp | rs786203999 |
| ensembl | rs786203999 |
| geneview | rs786203999 |
| scholar | rs786203999 |
| rs786203999 | |
| pharmgkb | rs786203999 |
| gwascentral | rs786203999 |
| openSNP | rs786203999 |
| 23andMe | rs786203999 |
| SNPshot | rs786203999 |
| SNPdbe | rs786203999 |
| MSV3d | rs786203999 |
| GWAS Ctlg | rs786203999 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786203999(G;G) |
| Alt | rs786203999(G;G) |
| Reference | Rs786203999(C;C) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | GPT2 |
| CLNDBN | Mental retardation, autosomal recessive 49 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.46940770C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000167577.5, |
