rs527236034
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs527236034(A;G) |
| Make rs527236034(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 13616545 |
| Gene | GRIN2B, LOC105369668 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs527236034 |
| dbSNP (classic) | rs527236034 |
| ClinGen | rs527236034 |
| ebi | rs527236034 |
| HLI | rs527236034 |
| Exac | rs527236034 |
| Gnomad | rs527236034 |
| Varsome | rs527236034 |
| LitVar | rs527236034 |
| Map | rs527236034 |
| PheGenI | rs527236034 |
| Biobank | rs527236034 |
| 1000 genomes | rs527236034 |
| hgdp | rs527236034 |
| ensembl | rs527236034 |
| geneview | rs527236034 |
| scholar | rs527236034 |
| rs527236034 | |
| pharmgkb | rs527236034 |
| gwascentral | rs527236034 |
| openSNP | rs527236034 |
| 23andMe | rs527236034 |
| SNPshot | rs527236034 |
| SNPdbe | rs527236034 |
| MSV3d | rs527236034 |
| GWAS Ctlg | rs527236034 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs527236034(G;G) |
| Alt | rs527236034(G;G) |
| Reference | Rs527236034(A;A) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | GRIN2B |
| CLNDBN | Mental retardation, autosomal dominant 6 |
| Reversed | 1 |
| HGVS | NC_000012.11:g.13769479T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000132723.1, |
