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rs34330

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome12
Position12717761
GeneCDKN1B, LOC101929220
is asnp
is mentioned by
dbSNPrs34330
ebirs34330
HLIrs34330
Exacrs34330
Varsomers34330
Maprs34330
PheGenIrs34330
hapmaprs34330
1000 genomesrs34330
hgdprs34330
ensemblrs34330
gopubmedrs34330
geneviewrs34330
scholarrs34330
googlers34330
pharmgkbrs34330
gwascentralrs34330
openSNPrs34330
23andMers34330
23andMe allrs34330
SNP Nexus

SNPshotrs34330
SNPdbers34330
MSV3drs34330
GWAS Ctlgrs34330
GMAF0.3421
Max Magnitude1.3
? (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 18174243OA-icon.png]

[PMID 15026335] found a significant association between rs34330 (-79C/T) and prostate cancer

[PMID 21454826OA-icon.png] 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

OMIM600778
DescCYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B
Variant
Relatedalso


[PMID 20075119] Allelic variant at -79 (C>T) in CDKNIB (p27Kip1) confers an increased risk of thyroid cancer and alters mRNA levels

OMIM176807
Desc
Variant
Relatedalso
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[PMID 17601350OA-icon.png] 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 19124506OA-icon.png] Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.


[PMID 19258477OA-icon.png] 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 20452958OA-icon.png] Single-nucleotide polymorphisms in the p53 signaling pathway.

GWAS snp
PMID [PMID 23273568OA-icon.png]
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