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rs104894895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894895(C;G)
Make rs104894895(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308551
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894895
dbSNP (classic)rs104894895
ClinGenrs104894895
ebirs104894895
HLIrs104894895
Exacrs104894895
Gnomadrs104894895
Varsomers104894895
LitVarrs104894895
Maprs104894895
PheGenIrs104894895
Biobankrs104894895
1000 genomesrs104894895
hgdprs104894895
ensemblrs104894895
geneviewrs104894895
scholarrs104894895
googlers104894895
pharmgkbrs104894895
gwascentralrs104894895
openSNPrs104894895
23andMers104894895
SNPshotrs104894895
SNPdbers104894895
MSV3drs104894895
GWAS Ctlgrs104894895
Max Magnitude0
OMIM300473
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894895(G;G)
Alt rs104894895(G;G)
Reference Rs104894895(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.30326668G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011706.5,