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rs104894071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894071(A;A)
Make rs104894071(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position142875730
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs104894071
ebirs104894071
HLIrs104894071
Exacrs104894071
Varsomers104894071
Maprs104894071
PheGenIrs104894071
hapmaprs104894071
1000 genomesrs104894071
hgdprs104894071
ensemblrs104894071
gopubmedrs104894071
geneviewrs104894071
scholarrs104894071
googlers104894071
pharmgkbrs104894071
gwascentralrs104894071
openSNPrs104894071
23andMers104894071
23andMe allrs104894071
SNP Nexus

SNPshotrs104894071
SNPdbers104894071
MSV3drs104894071
GWAS Ctlgrs104894071
Max Magnitude0
OMIM610613
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894071(A;A)
Alt rs104894071(A;A)
Reference rs104894071(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.143957146G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001246.3,