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rs386134263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134263(C;T)
Make rs386134263(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308223
GeneNR0B1
is asnp
is mentioned by
dbSNPrs386134263
ebirs386134263
HLIrs386134263
Exacrs386134263
Varsomers386134263
Maprs386134263
PheGenIrs386134263
hapmaprs386134263
1000 genomesrs386134263
hgdprs386134263
ensemblrs386134263
gopubmedrs386134263
geneviewrs386134263
scholarrs386134263
googlers386134263
pharmgkbrs386134263
gwascentralrs386134263
openSNPrs386134263
23andMers386134263
23andMe allrs386134263
SNP Nexus

SNPshotrs386134263
SNPdbers386134263
MSV3drs386134263
GWAS Ctlgrs386134263
Max Magnitude0
ClinVar
Risk rs386134263(T;T)
Alt rs386134263(T;T)
Reference rs386134263(C;C)
Significance Probable-Pathogenic
Disease Congenital adrenal hypoplasia
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.30326340G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030344.1,