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rs104894889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894889(A;A)
Make rs104894889(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308660
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894889
dbSNP (classic)rs104894889
ClinGenrs104894889
ebirs104894889
HLIrs104894889
Exacrs104894889
Gnomadrs104894889
Varsomers104894889
LitVarrs104894889
Maprs104894889
PheGenIrs104894889
Biobankrs104894889
1000 genomesrs104894889
hgdprs104894889
ensemblrs104894889
geneviewrs104894889
scholarrs104894889
googlers104894889
pharmgkbrs104894889
gwascentralrs104894889
openSNPrs104894889
23andMers104894889
SNPshotrs104894889
SNPdbers104894889
MSV3drs104894889
GWAS Ctlgrs104894889
Max Magnitude0
OMIM300473
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894889(A;A)
Alt rs104894889(A;A)
Reference Rs104894889(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.30326777C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011700.2,