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rs104894061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894061(C;T)
Make rs104894061(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142876242
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs104894061
ebirs104894061
HLIrs104894061
Exacrs104894061
Varsomers104894061
Maprs104894061
PheGenIrs104894061
hapmaprs104894061
1000 genomesrs104894061
hgdprs104894061
ensemblrs104894061
gopubmedrs104894061
geneviewrs104894061
scholarrs104894061
googlers104894061
pharmgkbrs104894061
gwascentralrs104894061
openSNPrs104894061
23andMers104894061
23andMe allrs104894061
SNP Nexus

SNPshotrs104894061
SNPdbers104894061
MSV3drs104894061
GWAS Ctlgrs104894061
Max Magnitude0
OMIM610613
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894061(T;T)
Alt rs104894061(T;T)
Reference rs104894061(C;C)
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.143957658G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001232.1,