rs1800440

minus

Geno	Mag	Summary
(A;A)	0	common on affy axiom data

Make rs1800440(A;G)

Make rs1800440(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

38070996

Gene

CYP1B1

is a	snp
is	mentioned by
dbSNP	rs1800440
dbSNP (classic)	rs1800440
ClinGen	rs1800440
ebi	rs1800440
HLI	rs1800440
Exac	rs1800440
Gnomad	rs1800440
Varsome	rs1800440
LitVar	rs1800440
Map	rs1800440
PheGenI	rs1800440
Biobank	rs1800440
1000 genomes	rs1800440
hgdp	rs1800440
ensembl	rs1800440
geneview	rs1800440
scholar	rs1800440
google	rs1800440
pharmgkb	rs1800440
gwascentral	rs1800440
openSNP	rs1800440
23andMe	rs1800440
SNPshot	rs1800440
SNPdbe	rs1800440
MSV3d	rs1800440
GWAS Ctlg	rs1800440

GMAF

0.09871

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

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

OMIM	601771
Desc	CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
Variant
Related	also

[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 22418777 ] 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 17116718 ] Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.

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

[PMID 17615053 ] 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 18544568 ] CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians.

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

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

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

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

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

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

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

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

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

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

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

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

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

[PMID 20701755 ] 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 22466345 ] Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women.

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

ClinVar
Risk	rs1800440(C;C) rs1800440(G;G)
Alt	rs1800440(C;C) rs1800440(G;G)
Reference	Rs1800440(A;A)
Significance	Probable-non-pathogenic
Disease	not specified Primary congenital glaucoma
Variation	info
Gene	CYP1B1
CLNDBN	not specified Primary congenital glaucoma
Reversed	1
HGVS	NC_000002.11:g.38298139T>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000153124.4, RCV000296245.1,

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

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

[PMID 23175176 ] 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 23213277 ] 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