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rs121909727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909727(C;C)
Make rs121909727(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position143282014
GeneNR3C1
is asnp
is mentioned by
dbSNPrs121909727
dbSNP (classic)rs121909727
ClinGenrs121909727
ebirs121909727
HLIrs121909727
Exacrs121909727
Gnomadrs121909727
Varsomers121909727
LitVarrs121909727
Maprs121909727
PheGenIrs121909727
Biobankrs121909727
1000 genomesrs121909727
hgdprs121909727
ensemblrs121909727
geneviewrs121909727
scholarrs121909727
googlers121909727
pharmgkbrs121909727
gwascentralrs121909727
openSNPrs121909727
23andMers121909727
SNPshotrs121909727
SNPdbers121909727
MSV3drs121909727
GWAS Ctlgrs121909727
Max Magnitude0
OMIM138040
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121909727(C;C)
Alt rs121909727(C;C)
Reference Rs121909727(T;T)
Significance Pathogenic
Disease Glucocorticoid resistance
Variation info
Gene NR3C1
CLNDBN Glucocorticoid resistance, generalized
Reversed 1
HGVS NC_000005.9:g.142661579A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017541.26,