rs2230600
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 1.9 |
| Make rs2230600(A;A) |
| Make rs2230600(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 86769845 |
| Gene | PTPN13 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230600 |
| dbSNP (classic) | rs2230600 |
| ClinGen | rs2230600 |
| ebi | rs2230600 |
| HLI | rs2230600 |
| Exac | rs2230600 |
| Gnomad | rs2230600 |
| Varsome | rs2230600 |
| LitVar | rs2230600 |
| Map | rs2230600 |
| PheGenI | rs2230600 |
| Biobank | rs2230600 |
| 1000 genomes | rs2230600 |
| hgdp | rs2230600 |
| ensembl | rs2230600 |
| geneview | rs2230600 |
| scholar | rs2230600 |
| rs2230600 | |
| pharmgkb | rs2230600 |
| gwascentral | rs2230600 |
| openSNP | rs2230600 |
| 23andMe | rs2230600 |
| SNPshot | rs2230600 |
| SNPdbe | rs2230600 |
| MSV3d | rs2230600 |
| GWAS Ctlg | rs2230600 |
| GMAF | 0.1855 |
| Max Magnitude | 1.9 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19892796
] rs2230600 We found that a significantly increased squamous cell carcinoma of the head and neck risk was associated with the c.4566 I1522M (G;G) genotype [odds ratio (OR), 1.89; 95% confidence interval (CI), 1.27-2.79
| ClinVar | |
|---|---|
| Risk | Rs2230600(G;G) |
| Alt | Rs2230600(G;G) |
| Reference | rs2230600(A;A) |
| Significance | Untested |
| Disease | Malignant melanoma of skin |
| Variation | info |
| Gene | PTPN13 |
| CLNDBN | Malignant melanoma of skin |
| Reversed | 0 |
| HGVS | NC_000004.12:g.86769845A>G |
| CLNSRC | |
| CLNACC | RCV000149694.1, |
