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rs104894062

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894062(A;A)
Make rs104894062(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position142875712
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs104894062
ebirs104894062
HLIrs104894062
Exacrs104894062
Varsomers104894062
Maprs104894062
PheGenIrs104894062
hapmaprs104894062
1000 genomesrs104894062
hgdprs104894062
ensemblrs104894062
gopubmedrs104894062
geneviewrs104894062
scholarrs104894062
googlers104894062
pharmgkbrs104894062
gwascentralrs104894062
openSNPrs104894062
23andMers104894062
23andMe allrs104894062
SNP Nexus

SNPshotrs104894062
SNPdbers104894062
MSV3drs104894062
GWAS Ctlgrs104894062
Max Magnitude0
OMIM610613
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894062(A;A)
Alt rs104894062(A;A)
Reference rs104894062(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.143957128C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001233.1,