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rs104894908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894908(C;T)
Make rs104894908(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30309255
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894908
dbSNP (classic)rs104894908
ClinGenrs104894908
ebirs104894908
HLIrs104894908
Exacrs104894908
Gnomadrs104894908
Varsomers104894908
LitVarrs104894908
Maprs104894908
PheGenIrs104894908
Biobankrs104894908
1000 genomesrs104894908
hgdprs104894908
ensemblrs104894908
geneviewrs104894908
scholarrs104894908
googlers104894908
pharmgkbrs104894908
gwascentralrs104894908
openSNPrs104894908
23andMers104894908
SNPshotrs104894908
SNPdbers104894908
MSV3drs104894908
GWAS Ctlgrs104894908
Max Magnitude0
OMIM300473
Desc
Variant0029
Relatedalso
ClinVar
Risk rs104894908(G;G) rs104894908(T;T)
Alt rs104894908(G;G) rs104894908(T;T)
Reference Rs104894908(C;C)
Significance Pathogenic
Disease Congenital adrenal hypoplasia
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.30327372G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011724.6,