rs2551715

This variant is located in the GSR gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Polymorphisms in oxidative stress‐related genes and postmenopausal breast cancer risk
AssociationN=2,409Petra Seibold et al.(2011)· International Journal of Cancer

Two-stage case-control study in Spanish population examining 76 polymorphisms in 27 oxidative stress-related genes for breast cancer susceptibility. Six SNPs (rs1052133 in OGG1, rs406113 and rs974334 in GPX6, rs2284659 in SOD3, rs4135225 in TXN, rs207454 in XDH) were significantly associated with breast cancer risk. A four-variant interaction (rs406113, rs974334, rs1052133, rs2284659) showed increased risk with OR = 1.75 [95% CI: 1.26-2.44], p-value = 0.0008.

Traits studied:Breast cancer
PubMedDOIMetascience Observatory

About GSR

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]

View all GSR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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