rs2287499
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2287499(C;C) |
| Make rs2287499(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 7688850 |
| Gene | TP53, WRAP53 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2287499 |
| dbSNP (classic) | rs2287499 |
| ClinGen | rs2287499 |
| ebi | rs2287499 |
| HLI | rs2287499 |
| Exac | rs2287499 |
| Gnomad | rs2287499 |
| Varsome | rs2287499 |
| LitVar | rs2287499 |
| Map | rs2287499 |
| PheGenI | rs2287499 |
| Biobank | rs2287499 |
| 1000 genomes | rs2287499 |
| hgdp | rs2287499 |
| ensembl | rs2287499 |
| geneview | rs2287499 |
| scholar | rs2287499 |
| rs2287499 | |
| pharmgkb | rs2287499 |
| gwascentral | rs2287499 |
| openSNP | rs2287499 |
| 23andMe | rs2287499 |
| SNPshot | rs2287499 |
| SNPdbe | rs2287499 |
| MSV3d | rs2287499 |
| GWAS Ctlg | rs2287499 |
| GMAF | 0.3379 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17683073] ER negative breast cancer association rs2287499, OR (95% CI) = 1.08 (0.95-1.23) for CG vs. CC and 1.60 (1.04-2.47) for GG vs. CC, p-trend = 0.01) (OR (95% CI) per variant allele: 1.42 (1.18-1.71) p-trend = 0.00009).
[PMID 17151932] Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma.
[PMID 17428325
] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.
[PMID 18978339] Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.
[PMID 19276375] Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer.
[PMID 20386703] Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.
[PMID 25134915] Single-strand conformational polymorphism analysis of a common single nucleotide variation in WRAP53 gene, rs2287499, and evaluating its association in relation to breast cancer risk and prognosis among Iranian-Azeri population
| ClinVar | |
|---|---|
| Risk | rs2287499(C;C) |
| Alt | rs2287499(C;C) |
| Reference | Rs2287499(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Dyskeratosis Congenita Li-Fraumeni syndrome |
| Variation | info |
| Gene | TP53 WRAP53 |
| CLNDBN | not specified Dyskeratosis Congenita, Recessive Li-Fraumeni syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.7592168C>G |
| CLNSRC | |
| CLNACC | RCV000253368.1, RCV000278137.1, RCV000354405.1, |
[PMID 31387111] Haplotype and linkage disequilibrium of TP53-WRAP53 locus in Iranian-Azeri women with breast cancer.
