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rs104893910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893910(G;G)
Make rs104893910(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position143281982
GeneNR3C1
is asnp
is mentioned by
dbSNPrs104893910
dbSNP (classic)rs104893910
ClinGenrs104893910
ebirs104893910
HLIrs104893910
Exacrs104893910
Gnomadrs104893910
Varsomers104893910
LitVarrs104893910
Maprs104893910
PheGenIrs104893910
Biobankrs104893910
1000 genomesrs104893910
hgdprs104893910
ensemblrs104893910
geneviewrs104893910
scholarrs104893910
googlers104893910
pharmgkbrs104893910
gwascentralrs104893910
openSNPrs104893910
23andMers104893910
SNPshotrs104893910
SNPdbers104893910
MSV3drs104893910
GWAS Ctlgrs104893910
Max Magnitude0
OMIM138040
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893910(C;C) rs104893910(G;G)
Alt rs104893910(C;C) rs104893910(G;G)
Reference Rs104893910(T;T)
Significance Pathogenic
Disease Glucocorticoid resistance
Variation info
Gene NR3C1
CLNDBN Glucocorticoid resistance, generalized
Reversed 1
HGVS NC_000005.9:g.142661547A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017534.30,