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rs1056837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1056837(C;C)
Make rs1056837(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position38071007
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs1056837
ebirs1056837
HLIrs1056837
Exacrs1056837
Varsomers1056837
Maprs1056837
PheGenIrs1056837
hapmaprs1056837
1000 genomesrs1056837
hgdprs1056837
ensemblrs1056837
gopubmedrs1056837
geneviewrs1056837
scholarrs1056837
googlers1056837
pharmgkbrs1056837
gwascentralrs1056837
openSNPrs1056837
23andMers1056837
23andMe allrs1056837
SNP Nexus

SNPshotrs1056837
SNPdbers1056837
MSV3drs1056837
GWAS Ctlgrs1056837
GMAF0.3783
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM601771
DescCYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
Variant
Relatedalso
[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 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 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


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


[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.


ClinVar
Risk rs1056837(C;C)
Alt rs1056837(C;C)
Reference rs1056837(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CYP1B1
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.38298150A>G
CLNSRC
CLNACC RCV000153125.2,



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


[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