rs139990565
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs139990565(A;A) |
| Make rs139990565(A;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 123326163 |
| Gene | GRIA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139990565 |
| dbSNP (classic) | rs139990565 |
| ClinGen | rs139990565 |
| ebi | rs139990565 |
| HLI | rs139990565 |
| Exac | rs139990565 |
| Gnomad | rs139990565 |
| Varsome | rs139990565 |
| LitVar | rs139990565 |
| Map | rs139990565 |
| PheGenI | rs139990565 |
| Biobank | rs139990565 |
| 1000 genomes | rs139990565 |
| hgdp | rs139990565 |
| ensembl | rs139990565 |
| geneview | rs139990565 |
| scholar | rs139990565 |
| rs139990565 | |
| pharmgkb | rs139990565 |
| gwascentral | rs139990565 |
| openSNP | rs139990565 |
| 23andMe | rs139990565 |
| SNPshot | rs139990565 |
| SNPdbe | rs139990565 |
| MSV3d | rs139990565 |
| GWAS Ctlg | rs139990565 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs139990565(A;A) rs139990565(T;T) |
| Alt | rs139990565(A;A) rs139990565(T;T) |
| Reference | Rs139990565(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | GRIA3 |
| CLNDBN | Mental retardation, X-linked, syndromic, wu type |
| Reversed | 0 |
| HGVS | NC_000023.10:g.122460014C>T |
| CLNSRC | |
| CLNACC | RCV000178131.1, |
