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rs104893908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893908(A;T)
Make rs104893908(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position143295561
GeneNR3C1
is asnp
is mentioned by
dbSNPrs104893908
dbSNP (classic)rs104893908
ClinGenrs104893908
ebirs104893908
HLIrs104893908
Exacrs104893908
Gnomadrs104893908
Varsomers104893908
LitVarrs104893908
Maprs104893908
PheGenIrs104893908
Biobankrs104893908
1000 genomesrs104893908
hgdprs104893908
ensemblrs104893908
geneviewrs104893908
scholarrs104893908
googlers104893908
pharmgkbrs104893908
gwascentralrs104893908
openSNPrs104893908
23andMers104893908
SNPshotrs104893908
SNPdbers104893908
MSV3drs104893908
GWAS Ctlgrs104893908
Max Magnitude0
OMIM138040
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893908(T;T)
Alt rs104893908(T;T)
Reference Rs104893908(A;A)
Significance Pathogenic
Disease Glucocorticoid resistance
Variation info
Gene NR3C1
CLNDBN Glucocorticoid resistance, generalized
Reversed 1
HGVS NC_000005.9:g.142675126T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017529.30,