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rs386134262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134262(C;C)
Make rs386134262(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308270
GeneNR0B1
is asnp
is mentioned by
dbSNPrs386134262
ebirs386134262
HLIrs386134262
Exacrs386134262
Varsomers386134262
Maprs386134262
PheGenIrs386134262
hapmaprs386134262
1000 genomesrs386134262
hgdprs386134262
ensemblrs386134262
gopubmedrs386134262
geneviewrs386134262
scholarrs386134262
googlers386134262
pharmgkbrs386134262
gwascentralrs386134262
openSNPrs386134262
23andMers386134262
23andMe allrs386134262
SNP Nexus

SNPshotrs386134262
SNPdbers386134262
MSV3drs386134262
GWAS Ctlgrs386134262
Max Magnitude0
ClinVar
Risk rs386134262(C;C)
Alt rs386134262(C;C)
Reference rs386134262(T;T)
Significance Probable-Pathogenic
Disease Congenital adrenal hypoplasia
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.30326387A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030343.1,