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rs104893914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893914(A;A)
Make rs104893914(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position143282714
GeneNR3C1
is asnp
is mentioned by
dbSNPrs104893914
dbSNP (classic)rs104893914
ClinGenrs104893914
ebirs104893914
HLIrs104893914
Exacrs104893914
Gnomadrs104893914
Varsomers104893914
LitVarrs104893914
Maprs104893914
PheGenIrs104893914
Biobankrs104893914
1000 genomesrs104893914
hgdprs104893914
ensemblrs104893914
geneviewrs104893914
scholarrs104893914
googlers104893914
pharmgkbrs104893914
gwascentralrs104893914
openSNPrs104893914
23andMers104893914
SNPshotrs104893914
SNPdbers104893914
MSV3drs104893914
GWAS Ctlgrs104893914
Max Magnitude0
OMIM138040
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104893914(A;A)
Alt rs104893914(A;A)
Reference Rs104893914(G;G)
Significance Pathogenic
Disease Glucocorticoid resistance
Variation info
Gene NR3C1
CLNDBN Glucocorticoid resistance, generalized
Reversed 1
HGVS NC_000005.9:g.142662279C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017540.29,