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rs104894896

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894896(G;T)
Make rs104894896(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308218
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894896
dbSNP (classic)rs104894896
ClinGenrs104894896
ebirs104894896
HLIrs104894896
Exacrs104894896
Gnomadrs104894896
Varsomers104894896
LitVarrs104894896
Maprs104894896
PheGenIrs104894896
Biobankrs104894896
1000 genomesrs104894896
hgdprs104894896
ensemblrs104894896
geneviewrs104894896
scholarrs104894896
googlers104894896
pharmgkbrs104894896
gwascentralrs104894896
openSNPrs104894896
23andMers104894896
SNPshotrs104894896
SNPdbers104894896
MSV3drs104894896
GWAS Ctlgrs104894896
Merged fromRs28935180
Max Magnitude0
OMIM300473
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894896(T;T)
Alt rs104894896(T;T)
Reference Rs104894896(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.30326335C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011711.5,