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rs104893912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893912(C;C)
Make rs104893912(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position143281905
GeneNR3C1
is asnp
is mentioned by
dbSNPrs104893912
dbSNP (classic)rs104893912
ClinGenrs104893912
ebirs104893912
HLIrs104893912
Exacrs104893912
Gnomadrs104893912
Varsomers104893912
LitVarrs104893912
Maprs104893912
PheGenIrs104893912
Biobankrs104893912
1000 genomesrs104893912
hgdprs104893912
ensemblrs104893912
geneviewrs104893912
scholarrs104893912
googlers104893912
pharmgkbrs104893912
gwascentralrs104893912
openSNPrs104893912
23andMers104893912
SNPshotrs104893912
SNPdbers104893912
MSV3drs104893912
GWAS Ctlgrs104893912
Max Magnitude0
OMIM138040
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893912(C;C)
Alt rs104893912(C;C)
Reference Rs104893912(T;T)
Significance Pathogenic
Disease Glucocorticoid resistance
Variation info
Gene NR3C1
CLNDBN Glucocorticoid resistance, generalized
Reversed 1
HGVS NC_000005.9:g.142661470A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017538.30,