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rs28935482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2
(G;G) 0 common in clinvar
Make rs28935482(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308491
GeneNR0B1
is asnp
is mentioned by
dbSNPrs28935482
ebirs28935482
HLIrs28935482
Exacrs28935482
Varsomers28935482
Maprs28935482
PheGenIrs28935482
hapmaprs28935482
1000 genomesrs28935482
hgdprs28935482
ensemblrs28935482
gopubmedrs28935482
geneviewrs28935482
scholarrs28935482
googlers28935482
pharmgkbrs28935482
gwascentralrs28935482
openSNPrs28935482
23andMers28935482
23andMe allrs28935482
SNP Nexus

SNPshotrs28935482
SNPdbers28935482
MSV3drs28935482
GWAS Ctlgrs28935482
Max Magnitude2
OMIM300473
DescADRENAL HYPOPLASIA, CONGENITAL
Variant0017
Relatedalso
Neighborrs28935481
Distance3818


ClinVar
Risk rs28935482(C;C)
Alt rs28935482(C;C)
Reference rs28935482(G;G)
Significance Pathogenic
Disease Congenital adrenal hypoplasia
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.30326608C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011712.9,