rs2066827
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2066827(G;G) |
| Make rs2066827(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 12718165 |
| Gene | CDKN1B, GPR19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066827 |
| dbSNP (classic) | rs2066827 |
| ClinGen | rs2066827 |
| ebi | rs2066827 |
| HLI | rs2066827 |
| Exac | rs2066827 |
| Gnomad | rs2066827 |
| Varsome | rs2066827 |
| LitVar | rs2066827 |
| Map | rs2066827 |
| PheGenI | rs2066827 |
| Biobank | rs2066827 |
| 1000 genomes | rs2066827 |
| hgdp | rs2066827 |
| ensembl | rs2066827 |
| geneview | rs2066827 |
| scholar | rs2066827 |
| rs2066827 | |
| pharmgkb | rs2066827 |
| gwascentral | rs2066827 |
| openSNP | rs2066827 |
| 23andMe | rs2066827 |
| SNPshot | rs2066827 |
| SNPdbe | rs2066827 |
| MSV3d | rs2066827 |
| GWAS Ctlg | rs2066827 |
| GMAF | 0.2952 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20075119] Allelic variant at -79 (C>T) in CDKNIB (p27Kip1) confers an increased risk of thyroid cancer and alters mRNA levels
[PMID 17409409] Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer.
[PMID 17459456
] A common variant of the p16(INK4a) genetic region is associated with physical function in older people.
[PMID 18174243] Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population.
[PMID 18281541] Effects of common germ-line genetic variation in cell cycle genes on ovarian cancer survival.
[PMID 18389087] Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.
[PMID 18507837] Effects of common germline genetic variation in cell cycle control genes on breast cancer survival: results from a population-based cohort.
[PMID 18543099] No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 19258477] Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.
[PMID 19543528] Association between common germline genetic variation in 94 candidate genes or regions and risks of invasive epithelial ovarian cancer.
[PMID 19667240] p27kip1-838C>A single nucleotide polymorphism is associated with restenosis risk after coronary stenting and modulates p27kip1 promoter activity.
[PMID 24920291] Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations
[PMID 25565272] Polymorphisms of cell cycle control genes influence the development of sporadic medullary thyroid carcinoma
[PMID 26579796] Genetic Association Between CDKN1B rs2066827 Polymorphism and Susceptibility to Cancer
| ClinVar | |
|---|---|
| Risk | rs2066827(A;A) rs2066827(C;C) rs2066827(G;G) |
| Alt | rs2066827(A;A) rs2066827(C;C) rs2066827(G;G) |
| Reference | Rs2066827(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Multiple endocrine neoplasia Multiple endocrine neoplasia not specified |
| Variation | info |
| Gene | LOC101929220 CDKN1B |
| CLNDBN | Multiple endocrine neoplasia Multiple endocrine neoplasia, type 4 not specified |
| Reversed | 0 |
| HGVS | NC_000012.11:g.12871099T>A; NC_000012.11:g.12871099T>G |
| CLNSRC | |
| CLNACC | RCV000389352.1, RCV000460482.1, RCV000244836.1, RCV000295040.1, |
