Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893913(A;A)
Make rs104893913(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position143310135
GeneNR3C1
is asnp
is mentioned by
dbSNPrs104893913
dbSNP (classic)rs104893913
ClinGenrs104893913
ebirs104893913
HLIrs104893913
Exacrs104893913
Gnomadrs104893913
Varsomers104893913
LitVarrs104893913
Maprs104893913
PheGenIrs104893913
Biobankrs104893913
1000 genomesrs104893913
hgdprs104893913
ensemblrs104893913
geneviewrs104893913
scholarrs104893913
googlers104893913
pharmgkbrs104893913
gwascentralrs104893913
openSNPrs104893913
23andMers104893913
SNPshotrs104893913
SNPdbers104893913
MSV3drs104893913
GWAS Ctlgrs104893913
Max Magnitude0
OMIM138040
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893913(A;A)
Alt rs104893913(A;A)
Reference Rs104893913(G;G)
Significance Pathogenic
Disease Glucocorticoid resistance
Variation info
Gene NR3C1
CLNDBN Glucocorticoid resistance, generalized
Reversed 1
HGVS NC_000005.9:g.142689700C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017539.29,