rs142619552
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs142619552(C;T) |
| Make rs142619552(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 2030014 |
| Gene | GABRD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142619552 |
| dbSNP (classic) | rs142619552 |
| ClinGen | rs142619552 |
| ebi | rs142619552 |
| HLI | rs142619552 |
| Exac | rs142619552 |
| Gnomad | rs142619552 |
| Varsome | rs142619552 |
| LitVar | rs142619552 |
| Map | rs142619552 |
| PheGenI | rs142619552 |
| Biobank | rs142619552 |
| 1000 genomes | rs142619552 |
| hgdp | rs142619552 |
| ensembl | rs142619552 |
| geneview | rs142619552 |
| scholar | rs142619552 |
| rs142619552 | |
| pharmgkb | rs142619552 |
| gwascentral | rs142619552 |
| openSNP | rs142619552 |
| 23andMe | rs142619552 |
| SNPshot | rs142619552 |
| SNPdbe | rs142619552 |
| MSV3d | rs142619552 |
| GWAS Ctlg | rs142619552 |
| Max Magnitude | 0 |
[PMID 21499247
] Exome sequencing identifies GRIN2A as frequently mutated in melanoma.
| ClinVar | |
|---|---|
| Risk | rs142619552(T;T) |
| Alt | rs142619552(T;T) |
| Reference | Rs142619552(C;C) |
| Significance | Untested |
| Disease | Malignant melanoma |
| Variation | info |
| Gene | GABRD |
| CLNDBN | Malignant melanoma |
| Reversed | 0 |
| HGVS | NC_000001.11:g.2030014C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000060029.2, |
