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rs104893909

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893909(A;A)
Make rs104893909(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position143300556
GeneNR3C1
is asnp
is mentioned by
dbSNPrs104893909
dbSNP (classic)rs104893909
ClinGenrs104893909
ebirs104893909
HLIrs104893909
Exacrs104893909
Gnomadrs104893909
Varsomers104893909
LitVarrs104893909
Maprs104893909
PheGenIrs104893909
Biobankrs104893909
1000 genomesrs104893909
hgdprs104893909
ensemblrs104893909
geneviewrs104893909
scholarrs104893909
googlers104893909
pharmgkbrs104893909
gwascentralrs104893909
openSNPrs104893909
23andMers104893909
SNPshotrs104893909
SNPdbers104893909
MSV3drs104893909
GWAS Ctlgrs104893909
Max Magnitude0
OMIM138040
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893909(A;A)
Alt rs104893909(A;A)
Reference Rs104893909(T;T)
Significance Pathogenic
Disease Glucocorticoid resistance
Variation info
Gene NR3C1
CLNDBN Glucocorticoid resistance, generalized
Reversed 1
HGVS NC_000005.9:g.142680121A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017533.26,