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rs387907234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907234(C;C)
Make rs387907234(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position43702647
GeneNNT
is asnp
is mentioned by
dbSNPrs387907234
dbSNP (classic)rs387907234
ClinGenrs387907234
ebirs387907234
HLIrs387907234
Exacrs387907234
Gnomadrs387907234
Varsomers387907234
LitVarrs387907234
Maprs387907234
PheGenIrs387907234
Biobankrs387907234
1000 genomesrs387907234
hgdprs387907234
ensemblrs387907234
geneviewrs387907234
scholarrs387907234
googlers387907234
pharmgkbrs387907234
gwascentralrs387907234
openSNPrs387907234
23andMers387907234
SNPshotrs387907234
SNPdbers387907234
MSV3drs387907234
GWAS Ctlgrs387907234
Max Magnitude0
ClinVar
Risk rs387907234(C;C)
Alt rs387907234(C;C)
Reference Rs387907234(G;G)
Significance Pathogenic
Disease Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
Variation info
Gene NNT
CLNDBN Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
Reversed 0
HGVS NC_000005.9:g.43702749G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000029198.4,