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rs104894887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894887(A;A)
Make rs104894887(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308576
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894887
dbSNP (classic)rs104894887
ClinGenrs104894887
ebirs104894887
HLIrs104894887
Exacrs104894887
Gnomadrs104894887
Varsomers104894887
LitVarrs104894887
Maprs104894887
PheGenIrs104894887
Biobankrs104894887
1000 genomesrs104894887
hgdprs104894887
ensemblrs104894887
geneviewrs104894887
scholarrs104894887
googlers104894887
pharmgkbrs104894887
gwascentralrs104894887
openSNPrs104894887
23andMers104894887
SNPshotrs104894887
SNPdbers104894887
MSV3drs104894887
GWAS Ctlgrs104894887
Max Magnitude0
OMIM300473
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894887(A;A)
Alt rs104894887(A;A)
Reference Rs104894887(T;T)
Significance Pathogenic
Disease Congenital adrenal hypoplasia
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.30326693A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011698.2,