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

rs4539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs4539(A;G)
Make rs4539(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position142915123
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs4539
dbSNP (old)rs4539
ClinGenrs4539
ebirs4539
HLIrs4539
Exacrs4539
Gnomadrs4539
Varsomers4539
Maprs4539
PheGenIrs4539
Biobankrs4539
1000 genomesrs4539
hgdprs4539
ensemblrs4539
gopubmedrs4539
geneviewrs4539
scholarrs4539
googlers4539
pharmgkbrs4539
gwascentralrs4539
openSNPrs4539
23andMers4539
23andMe allrs4539
SNP Nexus

SNPshotrs4539
SNPdbers4539
MSV3drs4539
GWAS Ctlgrs4539
GMAF0.3632
Max Magnitude0
OMIM124080
DescREMOVED FROM DATABASE
Variant0004
Relatedalso
Neighborrs28931609
Distance23
[PMID 20708777] Association of DNA Polymorphisms Within the CYP11B2/CYP11B1 Locus and Postoperative Hypertension Risk in the Patients With Aldosterone-producing Adenomas


[PMID 20339375] Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism.


GET Evidence
CYP11B2-K173R
aa_change Lys173Arg
aa_change_short K173R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.373953
summary



ClinVar
Risk rs4539(G;G)
Alt rs4539(G;G)
Reference Rs4539(A;A)
Significance Non-pathogenic
Disease Corticosterone methyloxidase type 1 deficiency Hyperaldosteronism Corticosterone methyloxidase type 2 deficiency
Variation info
Gene CYP11B2
CLNDBN Corticosterone methyloxidase type 1 deficiency Hyperaldosteronism, familial, type I Corticosterone methyloxidase type 2 deficiency
Reversed 1
HGVS NC_000008.10:g.143996539T>C
CLNSRC
CLNACC RCV000269208.1, RCV000307908.1, RCV000366140.1,