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rs104894894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894894(C;T)
Make rs104894894(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30304809
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894894
dbSNP (classic)rs104894894
ClinGenrs104894894
ebirs104894894
HLIrs104894894
Exacrs104894894
Gnomadrs104894894
Varsomers104894894
LitVarrs104894894
Maprs104894894
PheGenIrs104894894
Biobankrs104894894
1000 genomesrs104894894
hgdprs104894894
ensemblrs104894894
geneviewrs104894894
scholarrs104894894
googlers104894894
pharmgkbrs104894894
gwascentralrs104894894
openSNPrs104894894
23andMers104894894
SNPshotrs104894894
SNPdbers104894894
MSV3drs104894894
GWAS Ctlgrs104894894
Max Magnitude0
OMIM300473
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894894(T;T)
Alt rs104894894(T;T)
Reference Rs104894894(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.30322926G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011705.9, RCV000481802.1,