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rs10012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs10012(C;G)
Make rs10012(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position38075247
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs10012
ebirs10012
HLIrs10012
Exacrs10012
Varsomers10012
Maprs10012
PheGenIrs10012
hapmaprs10012
1000 genomesrs10012
hgdprs10012
ensemblrs10012
gopubmedrs10012
geneviewrs10012
scholarrs10012
googlers10012
pharmgkbrs10012
gwascentralrs10012
openSNPrs10012
23andMers10012
23andMe allrs10012
SNP Nexus

SNPshotrs10012
SNPdbers10012
MSV3drs10012
GWAS Ctlgrs10012
GMAF0.3356
Max Magnitude0
OMIM601771
DescCYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
Variant
Relatedalso
[PMID 20701755OA-icon.png] Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility


[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 18268125OA-icon.png] Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns.


[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 18763031OA-icon.png] CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.


[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 19168589OA-icon.png] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.


[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 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 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.


GET Evidence
CYP1B1-R48G
aa_change Arg48Gly
aa_change_short R48G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.349409
summary



ClinVar
Risk rs10012(G;G)
Alt rs10012(G;G)
Reference rs10012(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CYP1B1
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.38302390G>C
CLNSRC HGMD
CLNACC RCV000078125.4,



[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