rs3020314

plus

Geno	Mag	Summary
(C;C)		0.42x reduced lymphoma risk
(C;T)		0.64x reduced lymphoma risk
(T;T)		normal

Reference

GRCh38 38.1/141

Chromosome

6

Position

151949537

Gene

ESR1

is a	snp
is	mentioned by
dbSNP	rs3020314
dbSNP (classic)	rs3020314
ClinGen	rs3020314
ebi	rs3020314
HLI	rs3020314
Exac	rs3020314
Gnomad	rs3020314
Varsome	rs3020314
LitVar	rs3020314
Map	rs3020314
PheGenI	rs3020314
Biobank	rs3020314
1000 genomes	rs3020314
hgdp	rs3020314
ensembl	rs3020314
geneview	rs3020314
scholar	rs3020314
google	rs3020314
pharmgkb	rs3020314
gwascentral	rs3020314
openSNP	rs3020314
23andMe	rs3020314
SNPshot	rs3020314
SNPdbe	rs3020314
MSV3d	rs3020314
GWAS Ctlg	rs3020314

GMAF

0.433

Max Magnitude

0

?

(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 18636124 ]

[PMID 19126777 ] 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 20109228 ] Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians

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

[PMID 18350145 ] 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 19124506 ] 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.

[PMID 23641305 ] 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