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rs104894068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894068(C;T)
Make rs104894068(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142875877
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs104894068
ebirs104894068
HLIrs104894068
Exacrs104894068
Varsomers104894068
Maprs104894068
PheGenIrs104894068
hapmaprs104894068
1000 genomesrs104894068
hgdprs104894068
ensemblrs104894068
gopubmedrs104894068
geneviewrs104894068
scholarrs104894068
googlers104894068
pharmgkbrs104894068
gwascentralrs104894068
openSNPrs104894068
23andMers104894068
23andMe allrs104894068
SNP Nexus

SNPshotrs104894068
SNPdbers104894068
MSV3drs104894068
GWAS Ctlgrs104894068
Max Magnitude0
OMIM610613
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894068(T;T)
Alt rs104894068(T;T)
Reference rs104894068(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.143957293G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001237.2,