rs2302427
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2302427(C;G) |
| Make rs2302427(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 148828812 |
| Gene | EZH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2302427 |
| dbSNP (classic) | rs2302427 |
| ClinGen | rs2302427 |
| ebi | rs2302427 |
| HLI | rs2302427 |
| Exac | rs2302427 |
| Gnomad | rs2302427 |
| Varsome | rs2302427 |
| LitVar | rs2302427 |
| Map | rs2302427 |
| PheGenI | rs2302427 |
| Biobank | rs2302427 |
| 1000 genomes | rs2302427 |
| hgdp | rs2302427 |
| ensembl | rs2302427 |
| geneview | rs2302427 |
| scholar | rs2302427 |
| rs2302427 | |
| pharmgkb | rs2302427 |
| gwascentral | rs2302427 |
| openSNP | rs2302427 |
| 23andMe | rs2302427 |
| SNPshot | rs2302427 |
| SNPdbe | rs2302427 |
| MSV3d | rs2302427 |
| GWAS Ctlg | rs2302427 |
| Max Magnitude | 0 |
[PMID 24040354
] Effects of EZH2 polymorphisms on susceptibility to and pathological development of hepatocellular carcinoma
| ClinVar | |
|---|---|
| Risk | rs2302427(G;G) |
| Alt | rs2302427(G;G) |
| Reference | Rs2302427(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Weaver syndrome |
| Variation | info |
| Gene | EZH2 |
| CLNDBN | not specified Weaver syndrome |
| Reversed | 0 |
| HGVS | NC_000007.13:g.148525904C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000120897.5, RCV000336525.1, |
[PMID 24691023] Impact of EZH2 polymorphisms on urothelial cell carcinoma susceptibility and clinicopathologic features
[PMID 32748461] EZH2 Polymorphisms in melanoma skin cancer risk.
