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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1050450

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr3:49357401 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.27975 (68269/244032, GnomAD_exome)
A=0.27814 (34925/125568, TOPMED)
A=0.28055 (32216/114832, ExAC) (+ 4 more)
A=0.2997 (9361/31234, GnomAD)
A=0.217 (1089/5008, 1000G)
A=0.316 (1416/4480, Estonian)
A=0.35 (212/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
GPX1 : Missense Variant
Publications
100 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 3 NC_000003.12:g.49357401G>A
GRCh37.p13 chr 3 NC_000003.11:g.49394834G>A
RHOA RefSeqGene NG_051308.1:g.59697C>T
GPX1 RefSeqGene NG_012264.1:g.5958C>T
Gene: GPX1, glutathione peroxidase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GPX1 transcript variant 3 NM_001329502.2:c. N/A 3 Prime UTR Variant
GPX1 transcript variant 2 NM_201397.3:c. N/A 3 Prime UTR Variant
GPX1 transcript variant 4 NM_001329503.2:c. N/A 3 Prime UTR Variant
GPX1 transcript variant 5 NM_001329455.1:c.461C>T P [CCC] > L [CTC] Coding Sequence Variant
glutathione peroxidase 1 isoform 5 NP_001316384.1:p.Pro154Leu P (Pro) > L (Leu) Missense Variant
GPX1 transcript variant 1 NM_000581.4:c.599C>T P [CCC] > L [CTC] Coding Sequence Variant
glutathione peroxidase 1 isoform 1 NP_000572.2:p.Pro200Leu P (Pro) > L (Leu) Missense Variant
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Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 31121 )
ClinVar Accession Disease Names Clinical Significance
RCV000017462.2 GLUTATHIONE PEROXIDASE POLYMORPHISM Benign
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Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 244032 G=0.72025 A=0.27975
gnomAD - Exomes European Sub 130960 G=0.66279 A=0.33721
gnomAD - Exomes Asian Sub 48368 G=0.8297 A=0.1703
gnomAD - Exomes American Sub 34406 G=0.8441 A=0.1559
gnomAD - Exomes African Sub 14446 G=0.7089 A=0.2911
gnomAD - Exomes Ashkenazi Jewish Sub 9898 G=0.545 A=0.455
gnomAD - Exomes Other Sub 5954 G=0.698 A=0.302
TopMed Global Study-wide 125568 G=0.72186 A=0.27814
ExAC Global Study-wide 114832 G=0.71945 A=0.28055
ExAC Europe Sub 69464 G=0.6633 A=0.3367
ExAC Asian Sub 24508 G=0.8223 A=0.1777
ExAC American Sub 11422 G=0.8552 A=0.1448
ExAC African Sub 8586 G=0.704 A=0.296
ExAC Other Sub 852 G=0.68 A=0.32
gnomAD - Genomes Global Study-wide 31234 G=0.7003 A=0.2997
gnomAD - Genomes European Sub 18806 G=0.6726 A=0.3274
gnomAD - Genomes African Sub 8662 G=0.713 A=0.287
gnomAD - Genomes East Asian Sub 1550 G=0.952 A=0.048
gnomAD - Genomes Other Sub 1080 G=0.660 A=0.340
gnomAD - Genomes American Sub 848 G=0.82 A=0.18
gnomAD - Genomes Ashkenazi Jewish Sub 288 G=0.59 A=0.41
1000Genomes Global Study-wide 5008 G=0.783 A=0.217
1000Genomes African Sub 1322 G=0.728 A=0.272
1000Genomes East Asian Sub 1008 G=0.928 A=0.072
1000Genomes Europe Sub 1006 G=0.664 A=0.336
1000Genomes South Asian Sub 978 G=0.80 A=0.20
1000Genomes American Sub 694 G=0.83 A=0.17
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.684 A=0.316
Northern Sweden ACPOP Study-wide 600 G=0.65 A=0.35
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Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A Note
GRCh38.p12 chr 3 NC_000003.12:g.49357401= NC_000003.12:g.49357401G>A
GRCh37.p13 chr 3 NC_000003.11:g.49394834= NC_000003.11:g.49394834G>A
RHOA RefSeqGene NG_051308.1:g.59697= NG_051308.1:g.59697C>T
GPX1 RefSeqGene NG_012264.1:g.5958= NG_012264.1:g.5958C>T
GPX1 transcript variant 1 NM_000581.4:c.599= NM_000581.4:c.599C>T
GPX1 transcript variant 1 NM_000581.3:c.599= NM_000581.3:c.599C>T
GPX1 transcript variant 1 NM_000581.2:c.599= NM_000581.2:c.599C>T
GPX1 transcript variant 2 NM_201397.3:c.*581= NM_201397.3:c.*581C>T
GPX1 transcript variant 2 NM_201397.2:c.*581= NM_201397.2:c.*581C>T
GPX1 transcript variant 2 NM_201397.1:c.*581= NM_201397.1:c.*581C>T
GPX1 transcript variant 3 NM_001329502.2:c.*425= NM_001329502.2:c.*425C>T
GPX1 transcript variant 3 NM_001329502.1:c.*425= NM_001329502.1:c.*425C>T
GPX1 transcript variant 4 NM_001329503.2:c.*105= NM_001329503.2:c.*105C>T
GPX1 transcript variant 4 NM_001329503.1:c.*105= NM_001329503.1:c.*105C>T
GPX1 transcript variant 5 NM_001329455.1:c.461= NM_001329455.1:c.461C>T
glutathione peroxidase 1 isoform 1 NP_000572.2:p.Pro200= NP_000572.2:p.Pro200Leu
glutathione peroxidase 1 isoform 5 NP_001316384.1:p.Pro154= NP_001316384.1:p.Pro154Leu
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

61 SubSNP, 7 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss1525111 Oct 05, 2000 (86)
2 HGBASE ss2420785 Nov 14, 2000 (89)
3 TSC-CSHL ss2864480 Jan 22, 2001 (92)
4 CGAP-GAI ss4322935 Jan 04, 2002 (102)
5 SNP500CANCER ss5586547 Mar 31, 2003 (113)
6 SC_JCM ss5901378 Feb 20, 2003 (111)
7 WI_SSAHASNP ss11566735 Jul 11, 2003 (116)
8 EGP_SNPS ss12568572 Aug 26, 2003 (117)
9 BCM_SSAHASNP ss14213235 Dec 05, 2003 (119)
10 CGAP-GAI ss16249449 Feb 28, 2004 (133)
11 SEQUENOM ss24787925 Sep 20, 2004 (123)
12 KYUGEN ss35077551 May 24, 2005 (125)
13 ABI ss42118938 Mar 15, 2006 (126)
14 SI_EXO ss52067520 Oct 15, 2006 (127)
15 CORNELL ss86271845 Mar 23, 2008 (133)
16 HUMANGENOME_JCVI ss96008038 Feb 05, 2009 (130)
17 ENSEMBL ss135311585 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss162111385 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss166521716 Jul 04, 2010 (132)
20 GMI ss277117218 May 04, 2012 (137)
21 PJP ss292791781 May 09, 2011 (134)
22 1000GENOMES ss330677166 May 09, 2011 (134)
23 OMIM-CURATED-RECORDS ss469105355 Aug 09, 2011 (135)
24 1000GENOMES ss489878318 May 04, 2012 (137)
25 EXOME_CHIP ss491339807 May 04, 2012 (137)
26 CLINSEQ_SNP ss491834314 May 04, 2012 (137)
27 NCBI-CURATED-RECORDS ss537713235 Jan 04, 2013 (137)
28 TISHKOFF ss556599608 Apr 25, 2013 (138)
29 SSMP ss650276206 Apr 25, 2013 (138)
30 NHLBI-ESP ss712519613 Apr 25, 2013 (138)
31 EVA-GONL ss978564097 Aug 21, 2014 (142)
32 1000GENOMES ss1303895771 Aug 21, 2014 (142)
33 EVA_GENOME_DK ss1579953861 Apr 01, 2015 (144)
34 EVA_DECODE ss1588034550 Apr 01, 2015 (144)
35 EVA_EXAC ss1687007059 Apr 01, 2015 (144)
36 EVA_MGP ss1711017222 Apr 01, 2015 (144)
37 WEILL_CORNELL_DGM ss1921806685 Feb 12, 2016 (147)
38 JJLAB ss2021463100 Sep 14, 2016 (149)
39 USC_VALOUEV ss2149534443 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2251344213 Dec 20, 2016 (150)
41 TOPMED ss2418421424 Dec 20, 2016 (150)
42 GRF ss2704907138 Nov 08, 2017 (151)
43 GNOMAD ss2733753800 Nov 08, 2017 (151)
44 GNOMAD ss2747008359 Nov 08, 2017 (151)
45 GNOMAD ss2792646710 Nov 08, 2017 (151)
46 AFFY ss2985256238 Nov 08, 2017 (151)
47 AFFY ss2985876679 Nov 08, 2017 (151)
48 SWEGEN ss2992271616 Nov 08, 2017 (151)
49 CSHL ss3345008045 Nov 08, 2017 (151)
50 TOPMED ss3389831756 Nov 08, 2017 (151)
51 OMUKHERJEE_ADBS ss3646286106 Oct 12, 2018 (152)
52 URBANLAB ss3647397974 Oct 12, 2018 (152)
53 ILLUMINA ss3654024592 Oct 12, 2018 (152)
54 EGCUT_WGS ss3660192239 Jul 13, 2019 (153)
55 EVA_DECODE ss3709179305 Jul 13, 2019 (153)
56 ACPOP ss3729865272 Jul 13, 2019 (153)
57 EVA ss3759999616 Jul 13, 2019 (153)
58 PACBIO ss3784306907 Jul 13, 2019 (153)
59 PACBIO ss3789824065 Jul 13, 2019 (153)
60 PACBIO ss3794698000 Jul 13, 2019 (153)
61 KHV_HUMAN_GENOMES ss3803140753 Jul 13, 2019 (153)
62 1000Genomes NC_000003.11 - 49394834 Oct 12, 2018 (152)
63 Genetic variation in the Estonian population NC_000003.11 - 49394834 Oct 12, 2018 (152)
64 ExAC NC_000003.11 - 49394834 Oct 12, 2018 (152)
65 gnomAD - Genomes NC_000003.11 - 49394834 Jul 13, 2019 (153)
66 gnomAD - Exomes NC_000003.11 - 49394834 Jul 13, 2019 (153)
67 Northern Sweden NC_000003.11 - 49394834 Jul 13, 2019 (153)
68 TopMed NC_000003.12 - 49357401 Oct 12, 2018 (152)
69 ClinVar RCV000017462.2 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs11549656 Jul 29, 2011 (133)
rs61730124 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss162111385, ss166521716, ss277117218, ss292791781, ss491834314, ss1588034550 NC_000003.10:49369837:G:A NC_000003.12:49357400:G:A (self)
15080189, 5930487, 6931390, 41216606, 2832612, 3150137, ss330677166, ss489878318, ss491339807, ss556599608, ss650276206, ss712519613, ss978564097, ss1303895771, ss1579953861, ss1687007059, ss1711017222, ss1921806685, ss2021463100, ss2149534443, ss2418421424, ss2704907138, ss2733753800, ss2747008359, ss2792646710, ss2985256238, ss2985876679, ss2992271616, ss3345008045, ss3646286106, ss3654024592, ss3660192239, ss3729865272, ss3759999616, ss3784306907, ss3789824065, ss3794698000 NC_000003.11:49394833:G:A NC_000003.12:49357400:G:A (self)
RCV000017462.2, 250623310, ss469105355, ss537713235, ss2251344213, ss3389831756, ss3647397974, ss3709179305, ss3803140753 NC_000003.12:49357400:G:A NC_000003.12:49357400:G:A (self)
ss11566735 NT_006014.14:509906:G:A NC_000003.12:49357400:G:A (self)
ss14213235 NT_022517.16:49318845:G:A NC_000003.12:49357400:G:A (self)
ss52067520 NT_022517.17:49334837:G:A NC_000003.12:49357400:G:A (self)
ss1525111, ss2420785, ss2864480, ss4322935, ss5586547, ss5901378, ss12568572, ss16249449, ss24787925, ss35077551, ss42118938, ss86271845, ss96008038, ss135311585 NT_022517.18:49334833:G:A NC_000003.12:49357400:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

100 citations for rs1050450
PMID Title Author Year Journal
10220143 Low yield of polymorphisms from EST blast searching: analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1. Forsberg L et al. 1999 Human mutation
16797832 GPX1 Pro198Leu polymorphism, interactions with smoking and alcohol consumption, and risk for lung cancer. Raaschou-Nielsen O et al. 2007 Cancer letters
16945136 Gene x Gene interaction between MnSOD and GPX-1 and breast cancer risk: a nested case-control study. Cox DG et al. 2006 BMC cancer
17825092 Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. Nemoto M et al. 2007 Cardiovascular diabetology
18298806 Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years. Rosenberger A et al. 2008 BMC cancer
18340529 A prospective study of genetic polymorphism in MPO, antioxidant status, and breast cancer risk. He C et al. 2009 Breast cancer research and treatment
18682580 Oxidative response gene polymorphisms and risk of adult brain tumors. Rajaraman P et al. 2008 Neuro-oncology
19289153 Molecular mechanisms by which selenoproteins affect cancer risk and progression. Zhuo P et al. 2009 Biochimica et biophysica acta
19423521 Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma. Han X et al. 2009 Cancer epidemiology, biomarkers & prevention
19428448 The Mn-superoxide dismutase single nucleotide polymorphism rs4880 and the glutathione peroxidase 1 single nucleotide polymorphism rs1050450 are associated with aging and longevity in the oldest old. Soerensen M et al. 2009 Mechanisms of ageing and development
19505917 Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors. Bhatti P et al. 2009 Cancer epidemiology, biomarkers & prevention
19946932 Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjects. Souza RP et al. 2009 Human psychopharmacology
20003265 Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast. Maia AT et al. 2009 Breast cancer research
20097730 Antioxidant genes, diabetes and dietary antioxidants in association with risk of pancreatic cancer. Tang H et al. 2010 Carcinogenesis
20178852 Association study between polymorphisms in selenoprotein genes and susceptibility to Kashin-Beck disease. Xiong YM et al. 2010 Osteoarthritis and cartilage
20444272 Gene polymorphisms against DNA damage induced by hydrogen peroxide in leukocytes of healthy humans through comet assay: a quasi-experimental study. Miranda-Vilela AL et al. 2010 Environmental health
20477822 Single-nucleotide polymorphisms within the antioxidant defence system and associations with aggressive prostate cancer. Abe M et al. 2011 BJU international
20673164 Genetic association studies of antioxidant pathway genes and schizophrenia. Chowdari KV et al. 2011 Antioxidants & redox signaling
20852007 Effects of selenium status and polymorphisms in selenoprotein genes on prostate cancer risk in a prospective study of European men. Steinbrecher A et al. 2010 Cancer epidemiology, biomarkers & prevention
21052528 Polymorphisms in the selenoprotein S and 15-kDa selenoprotein genes are associated with altered susceptibility to colorectal cancer. Sutherland A et al. 2010 Genes & nutrition
21062213 Manganese superoxide dismutase dimorphism relationship with severity and prognosis in cardiogenic shock due to dilated cardiomyopathy. Charniot JC et al. 2011 Free radical research
21185702 Association between the rs1050450 glutathione peroxidase-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus. Tang TS et al. 2012 Nutrition, metabolism, and cardiovascular diseases
21484158 Genetic polymorphisms influence runners' responses to the dietary ingestion of antioxidant supplementation based on pequi oil (Caryocar brasiliense Camb.): a before-after study. Miranda-Vilela AL et al. 2011 Genes & nutrition
21595856 Genetic polymorphisms in antioxidative enzymes are associated to forced expiratory volume in 1 s (FEV1) in smokers independently of asthma. Malling TH et al. 2012 The clinical respiratory journal
21637495 Dietary carotenoid-rich oil supplementation improves exercise-induced anisocytosis in runners: influences of haptoglobin, MnSOD (Val9Ala), CAT (21A/T) and GPX1 (Pro198Leu) gene polymorphisms in dilutional pseudoanemia (sports anemia). Miranda-Vilela AL et al. 2010 Genetics and molecular biology
21637536 Superoxide dismutase, catalase, glutathione peroxidase and gluthatione S-transferases M1 and T1 gene polymorphisms in three Brazilian population groups. de Oliveira Hiragi C et al. 2011 Genetics and molecular biology
21658613 Host genetics in follicular lymphoma. Cerhan JR et al. 2011 Best practice & research. Clinical haematology
21795425 Genetic variation in myeloperoxidase modifies the association of serum α-tocopherol with aggressive prostate cancer among current smokers. Cheng TY et al. 2011 The Journal of nutrition
21842217 GPx-1 polymorphism (rs1050450) contributes to tumor susceptibility: evidence from meta-analysis. Chen J et al. 2011 Journal of cancer research and clinical oncology
21898179 Relevance of selenoprotein transcripts for selenium status in humans. Reszka E et al. 2012 Genes & nutrition
21921984 Genetic polymorphisms of superoxide dismutases, catalase, and glutathione peroxidase in age-related cataract. Zhang Y et al. 2011 Molecular vision
21967774 Glutathione enzyme and selenoprotein polymorphisms associate with mercury biomarker levels in Michigan dental professionals. Goodrich JM et al. 2011 Toxicology and applied pharmacology
21982398 Serum levels of selenium and smoking habits at age 50 influence long term prostate cancer risk; a 34 year ULSAM follow-up. Grundmark B et al. 2011 BMC cancer
22068340 Associations between functional polymorphisms in antioxidant defense genes and urinary oxidative stress biomarkers in healthy, premenopausal women. Al-Alem U et al. 2012 Genes & nutrition
22139612 Serum selenium and single-nucleotide polymorphisms in genes for selenoproteins: relationship to markers of oxidative stress in men from Auckland, New Zealand. Karunasinghe N et al. 2012 Genes & nutrition
22236634 An investigation of modifying effects of single nucleotide polymorphisms in metabolism-related genes on the relationship between peripheral nerve function and mercury levels in urine and hair. Wang Y et al. 2012 The Science of the total environment
22259188 Genetic variation in GPX1 is associated with GPX1 activity in a comprehensive analysis of genetic variations in selenoenzyme genes and their activity and oxidative stress in humans. Takata Y et al. 2012 The Journal of nutrition
22371331 Glutathione peroxidase tagSNPs: associations with rectal cancer but not with colon cancer. Haug U et al. 2012 Genes, chromosomes & cancer
22661588 Antioxidant enzyme polymorphisms and neuropsychological outcomes in medulloblastoma survivors: a report from the Childhood Cancer Survivor Study. Brackett J et al. 2012 Neuro-oncology
22877234 Polymorphisms in genes involved in oxidative stress response in patients with sudden sensorineural hearing loss and Ménière's disease in a Japanese population. Teranishi M et al. 2012 DNA and cell biology
22879966 Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. Verschuren JJ et al. 2012 PloS one
23073788 GPX1 gene Pro200Leu polymorphism, erythrocyte GPX activity, and cancer risk. Hong Z et al. 2013 Molecular biology reports
23133653 Polymorphisms in thioredoxin reductase and selenoprotein K genes and selenium status modulate risk of prostate cancer. Méplan C et al. 2012 PloS one
23175176 Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype. Etemadi A et al. 2013 International journal of cancer
23906684 Genetic associations with coronary heart disease: meta-analyses of 12 candidate genetic variants. Ye H et al. 2013 Gene
23975365 The rs1050450 C > T polymorphism of GPX1 is associated with the risk of bladder but not prostate cancer: evidence from a meta-analysis. Men T et al. 2014 Tumour biology
24056816 Glutathione transferase-A2 S112T polymorphism predicts survival, transplant-related mortality, busulfan and bilirubin blood levels after allogeneic stem cell transplantation. Bonifazi F et al. 2014 Haematologica
24255784 Research status and funding trends of lung cancer biomarkers. Li C et al. 2013 Journal of thoracic disease
24309190 Genetics of new-onset diabetes after transplantation. McCaughan JA et al. 2014 Journal of the American Society of Nephrology
24437375 Factors associated with oxidative stress and cancer risk in the Breast and Prostate Cancer Cohort Consortium. Blein S et al. 2014 Free radical research
24517502 Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease. Gromadzka G et al. 2015 Liver international
24562334 Genetics of oxidative stress in obesity. Rupérez AI et al. 2014 International journal of molecular sciences
24610081 Associations between SNPs within antioxidant genes and the risk of prostate cancer in the Siberian region of Russia. Oskina NA et al. 2014 Pathology oncology research
24895604 Antioxidant defense enzyme genes and asthma susceptibility: gender-specific effects and heterogeneity in gene-gene interactions between pathogenetic variants of the disease. Polonikov AV et al. 2014 BioMed research international
25463281 Association between maternal micronutrient status, oxidative stress, and common genetic variants in antioxidant enzymes at 15 weeks׳ gestation in nulliparous women who subsequently develop preeclampsia. Mistry HD et al. 2015 Free radical biology & medicine
25497738 Effect of 593C>T GPx1 SNP alone and in synergy with 47C>T SOD2 SNP on the outcome of critically ill patients. Majolo F et al. 2015 Cytokine
25666858 Pro198Leu polymorphism in the oxidative stress gene, glutathione peroxidase-1, is associated with a gender-specific risk for panic disorder. Cengiz M et al. 2015 International journal of psychiatry in clinical practice
26081749 Antioxidant-related gene polymorphisms associated with the cardio-ankle vascular index in young Russians. Sorokin AV et al. 2016 Cardiology in the young
26306600 Puzzling role of genetic risk factors in human longevity: "risk alleles" as pro-longevity variants. Ukraintseva S et al. 2016 Biogerontology
26355565 Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene? Häuser F et al. 2015 Genes and immunity
26446998 Lipid peroxidation and glutathione peroxidase activity relationship in breast cancer depends on functional polymorphism of GPX1. Jablonska E et al. 2015 BMC cancer
26497592 The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis. Pleva L et al. 2015 BMC cardiovascular disorders
26582562 Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver. Engelken J et al. 2016 Molecular biology and evolution
26658762 DNA damage and oxidative stress response to selenium yeast in the non-smoking individuals: a short-term supplementation trial with respect to GPX1 and SEPP1 polymorphism. Jablonska E et al. 2016 European journal of nutrition
26661784 Pro198Leu polymorphism affects the selenium status and GPx activity in response to Brazil nut intake. Cardoso BR et al. 2016 Food & function
26675765 Genetic polymorphisms that affect selenium status and response to selenium supplementation in United Kingdom pregnant women. Mao J et al. 2016 The American journal of clinical nutrition
26787049 Manganese superoxide dismutase, glutathione peroxidase and catalase gene polymorphisms and clinical outcomes in acute kidney injury. Kidir V et al. 2016 Renal failure
26839654 Genetics of coronary artery disease and myocardial infarction. Dai X et al. 2016 World journal of cardiology
26881045 Interplay between Superoxide Dismutase, Glutathione Peroxidase, and Peroxisome Proliferator Activated Receptor Gamma Polymorphisms on the Risk of End-Stage Renal Disease among Han Chinese Patients. Chao CT et al. 2016 Oxidative medicine and cellular longevity
26966665 An examination of clinical differences between carriers and non-carriers of chromosome 8q24 risk alleles in a New Zealand Caucasian population with prostate cancer. Bishop KS et al. 2016 PeerJ
26990426 Association of Catalase and Glutathione Peroxidase 1 Polymorphisms with Chronic Hepatitis C Outcome. Sousa VC et al. 2016 Annals of human genetics
27069453 Antioxidant defence-related genetic variants are not associated with higher risk of secondary thyroid cancer after treatment of malignancy in childhood or adolescence. Vodusek AL et al. 2016 Radiology and oncology
27099827 Polymorphisms in DNA repair and oxidative stress genes associated with pre-treatment cognitive function in breast cancer survivors: an exploratory study. Koleck TA et al. 2016 SpringerPlus
27164132 Influence of Gender and SNPs in GPX1 Gene on Biomarkers of Selenium Status in Healthy Brazilians. Donadio JL et al. 2016 Nutrients
27256326 Field synopsis and meta-analyses of genetic epidemiological evidence for Kashin-Beck disease, an endemic osteoarthropathy in China. Yang L et al. 2016 Molecular genetics and genomics
27271305 Single-Nucleotide Polymorphisms and Markers of Oxidative Stress in Healthy Women. Minlikeeva AN et al. 2016 PloS one
27302388 The association between antioxidant enzyme polymorphisms and cerebral palsy after perinatal hypoxic-ischaemic encephalopathy. Esih K et al. 2016 European journal of paediatric neurology
27480094 Association of interactions between dietary salt consumption and hypertension-susceptibility genetic polymorphisms with blood pressure among Japanese male workers. Imaizumi T et al. 2017 Clinical and experimental nephrology
27592002 Pro198Leu Polymorphism in the Glutathione Peroxidase 1 Gene Contributes to Diabetic Peripheral Neuropathy in Type 2 Diabetes Patients. Buraczynska M et al. 2017 Neuromolecular medicine
27679545 Functional polymorphisms in antioxidant genes in Hurthle cell thyroid neoplasm - an association of GPX1 polymorphism and recurrent Hurthle cell thyroid carcinoma. Krhin B et al. 2016 Radiology and oncology
28052094 Association between Polymorphisms in Antioxidant Genes and Inflammatory Bowel Disease. Costa Pereira C et al. 2017 PloS one
28073131 Evaluation of Glutathione Peroxidase and KCNJ11 Gene Polymorphisms in Patients with New Onset Diabetes Mellitus After Renal Transplantation. Yalin GY et al. 2017 Experimental and clinical endocrinology & diabetes
28222320 Antioxidant polymorphisms do not influence the risk of epilepsy or its drug resistance after neonatal hypoxic-ischemic brain injury. Esih K et al. 2017 Seizure
28253266 Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis. Wu X et al. 2017 PloS one
28501922 SEPP1 polymorphisms modulate serum glucose and lipid response to Brazil nut supplementation. Donadio JLS et al. 2018 European journal of nutrition
28696394 Influence of Genetic Variations in Selenoprotein Genes on the Pattern of Gene Expression after Supplementation with Brazil Nuts. Donadio JLS et al. 2017 Nutrients
28844971 Genetically driven antioxidant capacity in a Caucasian Southeastern European population. Katsarou MS et al. 2018 Mechanisms of ageing and development
28872562 GPX1 Pro198Leu polymorphism and GSTP1 Ile105Val polymorphisms are not associated with the risk of schizophrenia in the Chinese Han population. Gao H et al. 2017 Neuroreport
29246792 Association of GPX1 and GPX4 polymorphisms with episodic memory and Alzheimer's disease. da Rocha TJ et al. 2018 Neuroscience letters
29339975 Genetic polymorphisms of antioxidant enzymes CAT and SOD affect the outcome of clinical, biochemical, and anthropometric variables in people with obesity under a dietary intervention. Hernández-Guerrero C et al. 2018 Genes & nutrition
29383971 Evaluation of the oxidative stress-related genes ALOX5, ALOX5AP, GPX1, GPX3 and MPO for contribution to the risk of type 2 diabetes mellitus in the Han Chinese population. Liu D et al. 2018 Diabetes & vascular disease research
29411539 Association between glutathione peroxidase 1 codon 198 variant and the occurrence of breast cancer in Rwanda. Habyarimana T et al. 2018 Molecular genetics & genomic medicine
29609868 Genetic variants in selenoprotein genes modulate biomarkers of selenium status in response to Brazil nut supplementation (the SU.BRA.NUT study). Donadio JLS et al. 2019 Clinical nutrition (Edinburgh, Scotland)
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30114685 Association of Antioxidative Enzymes Polymorphisms with Efficacy of Platin and Fluorouracil-Based Adjuvant Therapy in Gastric Cancer. Zhang H et al. 2018 Cellular physiology and biochemistry
30206965 No evidence for a major effect of three common polymorphisms of the GPx1, MnSOD, and CAT genes on PCOS susceptibility. Salahshoor MR et al. 2018 Journal of cellular biochemistry
30358222 Association between GPX1 and SOD2 genetic polymorphisms and overall survival in patients with metastatic urothelial bladder cancer: a single-center study in Serbia. Nikic P et al. 2018 Journal of B.U.ON.
30524988 Genetic Polymorphisms of Catalase and Glutathione Peroxidase-1 in Keratoconus. Yari D et al. 2018 Iranian journal of public health
30668180 The Cu/Zn superoxide dismutase +35A/C (rs2234694) variant correlates with altered levels of protein carbonyls and glutathione and associates with severity of COPD in a Tunisian population. Ben Anes A et al. 2019 Free radical research
30813952 Genetic variability of inflammation and oxidative stress genes does not play a major role in the occurrence of adverse events of dopaminergic treatment in Parkinson's disease. Redenšek S et al. 2019 Journal of neuroinflammation

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post246+3cda961