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rs1056827

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1056827(G;T)
Make rs1056827(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position38075034
GeneCYP1B1, LOC100288457
is asnp
is mentioned by
dbSNPrs1056827
ebirs1056827
HLIrs1056827
Exacrs1056827
Varsomers1056827
Maprs1056827
PheGenIrs1056827
hapmaprs1056827
1000 genomesrs1056827
hgdprs1056827
ensemblrs1056827
gopubmedrs1056827
geneviewrs1056827
scholarrs1056827
googlers1056827
pharmgkbrs1056827
gwascentralrs1056827
openSNPrs1056827
23andMers1056827
23andMe allrs1056827
SNP Nexus

SNPshotrs1056827
SNPdbers1056827
MSV3drs1056827
GWAS Ctlgrs1056827
GMAF0.3223
Max Magnitude0
? (G;G) (G;T) (T;T) 28
[PMID 19383894OA-icon.png] Genetic Polymorphisms in the Catechol Estrogen Metabolism Pathway and Breast Cancer Risk
OMIM601771
DescCYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
Variant
Relatedalso

Also known as 355G>T or A119S, the T allele is associated with gene variants CYP1B1*2, CYP1B1*6 and CYP1B1*7.


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


[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 17548691OA-icon.png] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.


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


[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 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-A119S
aa_change Ala119Ser
aa_change_short A119S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.338706
summary



[PMID 23206929] Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population


[PMID 24320736] Role of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in Han Chinese: A case-control study


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


ClinVar
Risk rs1056827(T;T)
Alt rs1056827(T;T)
Reference rs1056827(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CYP1B1
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.38302177C>A
CLNSRC HGMD
CLNACC RCV000078127.4,