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rs104894066

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894066(A;A)
Make rs104894066(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position142879080
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs104894066
dbSNP (classic)rs104894066
ClinGenrs104894066
ebirs104894066
HLIrs104894066
Exacrs104894066
Gnomadrs104894066
Varsomers104894066
LitVarrs104894066
Maprs104894066
PheGenIrs104894066
Biobankrs104894066
1000 genomesrs104894066
hgdprs104894066
ensemblrs104894066
geneviewrs104894066
scholarrs104894066
googlers104894066
pharmgkbrs104894066
gwascentralrs104894066
openSNPrs104894066
23andMers104894066
SNPshotrs104894066
SNPdbers104894066
MSV3drs104894066
GWAS Ctlgrs104894066
Max Magnitude0
OMIM610613
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894066(A;A)
Alt rs104894066(A;A)
Reference Rs104894066(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.143960496C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001235.2,