Have questions? Visit https://www.reddit.com/r/SNPedia

rs1800440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs1800440(A;G)
Make rs1800440(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position38070996
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs1800440
ebirs1800440
HLIrs1800440
Exacrs1800440
Varsomers1800440
Maprs1800440
PheGenIrs1800440
hapmaprs1800440
1000 genomesrs1800440
hgdprs1800440
ensemblrs1800440
gopubmedrs1800440
geneviewrs1800440
scholarrs1800440
googlers1800440
pharmgkbrs1800440
gwascentralrs1800440
openSNPrs1800440
23andMers1800440
23andMe allrs1800440
SNP Nexus

SNPshotrs1800440
SNPdbers1800440
MSV3drs1800440
GWAS Ctlgrs1800440
GMAF0.09871
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 19730035] CYP1B1 genotype and risk of cardiovascular disease, pulmonary disease, and cancer in 50,000 individuals

OMIM601771
DescCYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
Variant
Relatedalso

[PMID 19895167] CYP1B1 gene polymorphism modifies pancreatic cancer risk but not survival


[PMID 20381444] Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk


[PMID 22418777OA-icon.png] Estrogen-related genes and their contribution to racial differences in breast cancer risk


[PMID 22459615] CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis


[PMID 16172230] Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.


[PMID 16864595] The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1 and UGT1A1 on urine 1-hydroxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil.


[PMID 17116718OA-icon.png] Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.


[PMID 17160896OA-icon.png] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.


[PMID 17615053OA-icon.png] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.


[PMID 18470941] Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.


[PMID 18544568OA-icon.png] CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians.


[PMID 18628428OA-icon.png] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.


[PMID 18632753OA-icon.png] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.


[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 18989382OA-icon.png] Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.


[PMID 18990750OA-icon.png] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.


[PMID 19015200OA-icon.png] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.


[PMID 19287484OA-icon.png] Clique-finding for heterogeneity and multidimensionality in biomarker epidemiology research: the CHAMBER algorithm.


[PMID 19293312OA-icon.png] Association of CYP1B1 haplotypes and breast cancer risk in Caucasian women.


[PMID 19479063OA-icon.png] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.


[PMID 19597567OA-icon.png] Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.


[PMID 19630952OA-icon.png] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.


[PMID 19754948OA-icon.png] Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.


[PMID 20057908OA-icon.png] Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.


[PMID 20701755OA-icon.png] Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility.


[PMID 20878130] Association between exposure-relevant polymorphisms in CYP1B1, EPHX1, NQO1, GSTM1, GSTP1 and GSTT1 and risk of colorectal cancer in a Czech population.


[PMID 20889730] Cytochrome P450 1B1 gene polymorphisms as predictors of anticancer drug activity: studies with in vitro models.


[PMID 21674184] Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis.


[PMID 22466345OA-icon.png] Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women.


GET Evidence
CYP1B1-N453S
aa_change Asn453Ser
aa_change_short N453S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.13311
summary



[PMID 23370603] Catechol-O-Methyltransferase and Cytochrome P-450 1B1 Polymorphisms and Endometrial Cancer Risk: A Meta-analysis


ClinVar
Risk rs1800440(C,G;C,G)
Alt rs1800440(C,G;C,G)
Reference rs1800440(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CYP1B1
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.38298139T>C
CLNSRC HGMD
CLNACC RCV000153124.3,



[PMID 22633539OA-icon.png] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.


[PMID 22840970OA-icon.png] Genetic polymorphisms in the aryl hydrocarbon receptor signaling pathway as potential risk factors of menopausal hot flashes.


[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.


[PMID 23325794] Genetic polymorphisms in catalase and CYP1B1 determine DNA adduct formation by benzo(a)pyrene ex vivo.


[PMID 23213277OA-icon.png] Absence of NR2E1 mutations in patients with aniridia.


[PMID 25027399] Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men


[PMID 25796598] Polymorphisms of the CYP1B1 gene and Hepatocellular Cancer Risk in a Chinese Population