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rs104894892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894892(A;A)
Make rs104894892(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30309091
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894892
dbSNP (classic)rs104894892
ClinGenrs104894892
ebirs104894892
HLIrs104894892
Exacrs104894892
Gnomadrs104894892
Varsomers104894892
LitVarrs104894892
Maprs104894892
PheGenIrs104894892
Biobankrs104894892
1000 genomesrs104894892
hgdprs104894892
ensemblrs104894892
geneviewrs104894892
scholarrs104894892
googlers104894892
pharmgkbrs104894892
gwascentralrs104894892
openSNPrs104894892
23andMers104894892
SNPshotrs104894892
SNPdbers104894892
MSV3drs104894892
GWAS Ctlgrs104894892
Max Magnitude0
OMIM300473
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894892(A;A)
Alt rs104894892(A;A)
Reference Rs104894892(C;C)
Significance Pathogenic
Disease Congenital adrenal hypoplasia not provided
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked not provided
Reversed 1
HGVS NC_000023.10:g.30327208G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011703.2, RCV000413730.1,