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rs3020314

From SNPedia

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Stabilizedplus
Geno Mag Summary
(C;C) 0.42x reduced lymphoma risk
(C;T) 0.64x reduced lymphoma risk
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome6
Position151949537
GeneESR1
is asnp
is mentioned by
dbSNPrs3020314
ebirs3020314
HLIrs3020314
Exacrs3020314
Varsomers3020314
Maprs3020314
PheGenIrs3020314
hapmaprs3020314
1000 genomesrs3020314
hgdprs3020314
ensemblrs3020314
gopubmedrs3020314
geneviewrs3020314
scholarrs3020314
googlers3020314
pharmgkbrs3020314
gwascentralrs3020314
openSNPrs3020314
23andMers3020314
23andMe allrs3020314
SNP Nexus

SNPshotrs3020314
SNPdbers3020314
MSV3drs3020314
GWAS Ctlgrs3020314
GMAF0.433
Max Magnitude
? (C;C) (C;T) (T;T) 28
Associated with (reduced) risk for follicular lymphoma. Based on studying ~1,300 patients in 2 populations, for (C;C) homozygotes, the odds ratio was 0.42 (CI: 0.23-0.77), and for the (C;T) heterozygotes, 0.64 (CI: .46-.88), p(trend) = 4x10e-4. [PMID 18636124OA-icon.png]

[PMID 19126777OA-icon.png] estrogen receptor-positive breast cancer risk (C) have an Odds Ratio (OR) = 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P= 0.004.



[PMID 20109228OA-icon.png] Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians


[PMID 17367212OA-icon.png] Association between common variation in 120 candidate genes and breast cancer risk.


[PMID 18350145OA-icon.png] Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.


[PMID 18678289] Polymorphisms in the estrogen receptor genes are associated with hip fractures in Chinese.


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


[PMID 19152063] Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage.


[PMID 19760036] Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis.


GET Evidence
rs3020314
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.4375
summary



[PMID 23641305OA-icon.png] ESR1 single nucleotide polymorphisms predict breast cancer susceptibility in the central European Caucasian population


[PMID 25228414] Variants of estrogen-related genes and breast cancer risk in European and African American women