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rs104894072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894072(A;C)
Make rs104894072(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position142915047
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs104894072
ebirs104894072
HLIrs104894072
Exacrs104894072
Varsomers104894072
Maprs104894072
PheGenIrs104894072
hapmaprs104894072
1000 genomesrs104894072
hgdprs104894072
ensemblrs104894072
gopubmedrs104894072
geneviewrs104894072
scholarrs104894072
googlers104894072
pharmgkbrs104894072
gwascentralrs104894072
openSNPrs104894072
23andMers104894072
23andMe allrs104894072
SNP Nexus

SNPshotrs104894072
SNPdbers104894072
MSV3drs104894072
GWAS Ctlgrs104894072
Max Magnitude0
OMIM124080
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894072(C;C)
Alt rs104894072(C;C)
Reference rs104894072(A;A)
Significance Pathogenic
Disease Corticosterone methyloxidase type 1 deficiency
Variation info
Gene CYP11B2
CLNDBN Corticosterone methyloxidase type 1 deficiency
Reversed 1
HGVS NC_000008.10:g.143996463T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018373.27,