rs1800371
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 1.7 | Slight increase in breast cancer risk for pre-menopausal African women |
| Make rs1800371(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 7676230 |
| Gene | TP53 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800371 |
| dbSNP (classic) | rs1800371 |
| ClinGen | rs1800371 |
| ebi | rs1800371 |
| HLI | rs1800371 |
| Exac | rs1800371 |
| Gnomad | rs1800371 |
| Varsome | rs1800371 |
| LitVar | rs1800371 |
| Map | rs1800371 |
| PheGenI | rs1800371 |
| Biobank | rs1800371 |
| 1000 genomes | rs1800371 |
| hgdp | rs1800371 |
| ensembl | rs1800371 |
| geneview | rs1800371 |
| scholar | rs1800371 |
| rs1800371 | |
| pharmgkb | rs1800371 |
| gwascentral | rs1800371 |
| openSNP | rs1800371 |
| 23andMe | rs1800371 |
| SNPshot | rs1800371 |
| SNPdbe | rs1800371 |
| MSV3d | rs1800371 |
| GWAS Ctlg | rs1800371 |
| GMAF | 0.006428 |
| Max Magnitude | 1.7 |
In an analysis restricted to pre-menopausal women, there was a per allele odds ratio associated with breast cancer of 1.72 (CI: 1.08-2.76; p-value = 0.023) for rs1800371(T), a functional polymorphism in the TP53 gene. Although this (Pro47Ser) variant was not associated with overall breast cancer risk, it may increase risk among pre-menopausal women of African ancestry.[PMID 28649645
]
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24324286] Investigation of genetic polymorphisms related to the outcome of radiotherapy for prostate cancer patients
[PMID 18212354] Genes in glucose metabolism and association with spina bifida.
[PMID 18798306] Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.
[PMID 19784392] Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism.
| ClinVar | |
|---|---|
| Risk | rs1800371(A;A) rs1800371(T;T) |
| Alt | rs1800371(A;A) rs1800371(T;T) |
| Reference | Rs1800371(C;C) |
| Significance | Other |
| Disease | not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome |
| Variation | info |
| Gene | TP53 |
| CLNDBN | not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.7579548G>A; NC_000017.10:g.7579548G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000036530.4, RCV000131567.4, RCV000172826.1, RCV000203736.3, RCV000463583.1, |
[PMID 25935255] TP53 polymorphism may contribute to genetic susceptibility to develop Hashimoto's thyroiditis
[PMID 28649645] A functionally significant SNP in TP53 and breast cancer risk in African-American women.
