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rs28931609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28931609(C;T)
Make rs28931609(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142915100
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs28931609
ebirs28931609
HLIrs28931609
Exacrs28931609
Varsomers28931609
Maprs28931609
PheGenIrs28931609
hapmaprs28931609
1000 genomesrs28931609
hgdprs28931609
ensemblrs28931609
gopubmedrs28931609
geneviewrs28931609
scholarrs28931609
googlers28931609
pharmgkbrs28931609
gwascentralrs28931609
openSNPrs28931609
23andMers28931609
23andMe allrs28931609
SNP Nexus

SNPshotrs28931609
SNPdbers28931609
MSV3drs28931609
GWAS Ctlgrs28931609
Max Magnitude0
OMIM124080
DescCORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
Variant0001
Relatedalso
Neighborrs28930074
Distance2247
Neighborrs4539
Distance23


ClinVar
Risk rs28931609(T;T)
Alt rs28931609(T;T)
Reference rs28931609(C;C)
Significance Pathogenic
Disease Corticosterone methyloxidase type 2 deficiency
Variation info
Gene CYP11B2
CLNDBN Corticosterone methyloxidase type 2 deficiency
Reversed 1
HGVS NC_000008.10:g.143996516G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018372.27,