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rs2072590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0
(G;T) 1.2 1.2x increased risk for ovarian cancer
(T;T) 1.4 1.4x increased risk for ovarian cancer
ReferenceGRCh38 38.1/141
Chromosome2
Position176177905
GeneHAGLR, HAGLROS
is asnp
is mentioned by
dbSNPrs2072590
dbSNP (classic)rs2072590
ClinGenrs2072590
ebirs2072590
HLIrs2072590
Exacrs2072590
Gnomadrs2072590
Varsomers2072590
LitVarrs2072590
Maprs2072590
PheGenIrs2072590
Biobankrs2072590
1000 genomesrs2072590
hgdprs2072590
ensemblrs2072590
geneviewrs2072590
scholarrs2072590
googlers2072590
pharmgkbrs2072590
gwascentralrs2072590
openSNPrs2072590
23andMers2072590
SNPshotrs2072590
SNPdbers2072590
MSV3drs2072590
GWAS Ctlgrs2072590
GMAF0.2378
Max Magnitude1.4

rs2072590 is a SNP on chromosome 2q31, in a noncoding region ~5 kb distal to the HOXD3 gene and ~10 kb proximal to HOXD1.

A genome-wide association study ultimately including over 10,000 ovarian cancer patients found statistically strong (p = 3.8 × 10e?14) evidence for slightly elevated risk associated with the rs2072590(T) allele, with an odds ratio of 1.20 (CI: 1.14–1.25) as calculated for the serous subtype (of ovarian cancer), though it was significant for the other subtypes as well.[PMID 20852632OA-icon.png]

? (G;G) (G;T) (T;T) 28


GWAS snp
PMID [PMID 20852632OA-icon.png]
Trait
Title A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24
Risk Allele T
P-val 5E-14
Odds Ratio 1.16 [1.12-1.21]


[PMID 22235027OA-icon.png] Evaluation of microRNA expression profiles and their associations with risk alleles in lymphoblastoid cell lines of familial ovarian cancer.

GWAS snp
PMID [PMID 23535730OA-icon.png]
Trait Ovarian cancer
Title GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
Risk Allele
P-val 3E-10
Odds Ratio 1.13 [1.09-1.18]


[PMID 23133607OA-icon.png] Associations between gene expression variations and ovarian cancer risk alleles identified from genome wide association studies.


[PMID 25173882OA-icon.png] Replication Study for the Association of Seven Genome- Gwas-Identified Loci With Susceptibility to Ovarian Cancer in the Polish Population


[PMID 29262571OA-icon.png] Ovarian cancer variant rs2072590 is associated with HOXD1 and HOXD3 gene expression.