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rs28934586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28934586(A;A)
Make rs28934586(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position142875012
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs28934586
ebirs28934586
HLIrs28934586
Exacrs28934586
Varsomers28934586
Maprs28934586
PheGenIrs28934586
hapmaprs28934586
1000 genomesrs28934586
hgdprs28934586
ensemblrs28934586
gopubmedrs28934586
geneviewrs28934586
scholarrs28934586
googlers28934586
pharmgkbrs28934586
gwascentralrs28934586
openSNPrs28934586
23andMers28934586
23andMe allrs28934586
SNP Nexus

SNPshotrs28934586
SNPdbers28934586
MSV3drs28934586
GWAS Ctlgrs28934586
Max Magnitude0
OMIM610613
Desc
Variant0001
Relatedalso


ClinVar
Risk rs28934586(A;A)
Alt rs28934586(A;A)
Reference rs28934586(G;G)
Significance Pathogenic
Disease Deficiency of steroid 11-beta-monooxygenase
Variation info
Gene CYP11B1
CLNDBN Deficiency of steroid 11-beta-monooxygenase
Reversed 1
HGVS NC_000008.10:g.143956428C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001230.2,