rs34330
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal risk for endometrial/breast cancer |
| (C;T) | 1.3 | 1.3x higher risk for endometrial cancer (in Chinese women) |
| (T;C) | ||
| (T;T) | 1.3 | 1.2x higher breast cancer risk; 1.3x higher risk for endometrial cancer (in Chinese women) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 12717761 |
| Gene | CDKN1B, GPR19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34330 |
| dbSNP (classic) | rs34330 |
| ClinGen | rs34330 |
| ebi | rs34330 |
| HLI | rs34330 |
| Exac | rs34330 |
| Gnomad | rs34330 |
| Varsome | rs34330 |
| LitVar | rs34330 |
| Map | rs34330 |
| PheGenI | rs34330 |
| Biobank | rs34330 |
| 1000 genomes | rs34330 |
| hgdp | rs34330 |
| ensembl | rs34330 |
| geneview | rs34330 |
| scholar | rs34330 |
| rs34330 | |
| pharmgkb | rs34330 |
| gwascentral | rs34330 |
| openSNP | rs34330 |
| 23andMe | rs34330 |
| SNPshot | rs34330 |
| SNPdbe | rs34330 |
| MSV3d | rs34330 |
| GWAS Ctlg | rs34330 |
| GMAF | 0.3421 |
| Max Magnitude | 1.3 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs34330 shows an association with breast cancer in a British study involving ~2300 patients. The odds ratio for the (T;T) vs (C;C) homozygotes is 1.22 (CI: 1.02-1.47, p=0.013).[PMID 18174243
]
[PMID 15026335] found a significant association between rs34330 (-79C/T) and prostate cancer
[PMID 21454826] found higher odds for endometrial cancer among 1,200+ Chinese patients associated with rs34330, with an odds ratio of 1.33 (CI: 1.06-1.66) and 1.51 (CI: 1.16-1.94) for the (C;T) and (T;T) genotypes, respectively, compared with the (C;C) genotype.
see also omim 176807
[PMID 20075119] Allelic variant at -79 (C>T) in CDKNIB (p27Kip1) confers an increased risk of thyroid cancer and alters mRNA levels
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 17459456] A common variant of the p16(INK4a) genetic region is associated with physical function in older people.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 17908995] Genetic variants in cell cycle control pathway confer susceptibility to lung cancer.
[PMID 19124506] Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
[PMID 19258477] Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.
[PMID 19667240] p27kip1-838C>A single nucleotide polymorphism is associated with restenosis risk after coronary stenting and modulates p27kip1 promoter activity.
[PMID 20452958] Single-nucleotide polymorphisms in the p53 signaling pathway.
| GWAS snp | |
|---|---|
| PMID | [PMID 23273568]
|
| Trait | Systemic lupus erythematosus |
| Title | Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. |
| Risk Allele | C |
| P-val | 5E-12 |
| Odds Ratio | 1.19 |
[PMID 28667701] The functional variant rs34330 of CDKN1B is associated with risk of neuroblastoma.
| ClinVar | |
|---|---|
| Risk | Rs34330(C;C) |
| Alt | Rs34330(C;C) |
| Reference | Rs34330(T;T) |
| Significance | Non-pathogenic |
| Disease | Multiple endocrine neoplasia |
| Variation | info |
| Gene | LOC101929220 CDKN1B |
| CLNDBN | Multiple endocrine neoplasia |
| Reversed | 0 |
| HGVS | NC_000012.11:g.12870695T>C |
| CLNSRC | |
| CLNACC | RCV000324513.1, |
