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rs104894067

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894067(A;C)
Make rs104894067(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position142877221
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs104894067
ebirs104894067
HLIrs104894067
Exacrs104894067
Varsomers104894067
Maprs104894067
PheGenIrs104894067
hapmaprs104894067
1000 genomesrs104894067
hgdprs104894067
ensemblrs104894067
gopubmedrs104894067
geneviewrs104894067
scholarrs104894067
googlers104894067
pharmgkbrs104894067
gwascentralrs104894067
openSNPrs104894067
23andMers104894067
23andMe allrs104894067
SNP Nexus

SNPshotrs104894067
SNPdbers104894067
MSV3drs104894067
GWAS Ctlgrs104894067
Max Magnitude0
OMIM610613
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894067(C,G;C,G)
Alt rs104894067(C,G;C,G)
Reference rs104894067(A;A)
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.143958637T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001236.2,