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rs104894897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894897(G;G)
Make rs104894897(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30304676
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894897
dbSNP (classic)rs104894897
ClinGenrs104894897
ebirs104894897
HLIrs104894897
Exacrs104894897
Gnomadrs104894897
Varsomers104894897
LitVarrs104894897
Maprs104894897
PheGenIrs104894897
Biobankrs104894897
1000 genomesrs104894897
hgdprs104894897
ensemblrs104894897
geneviewrs104894897
scholarrs104894897
googlers104894897
pharmgkbrs104894897
gwascentralrs104894897
openSNPrs104894897
23andMers104894897
SNPshotrs104894897
SNPdbers104894897
MSV3drs104894897
GWAS Ctlgrs104894897
Max Magnitude0
OMIM300473
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104894897(G;G)
Alt rs104894897(G;G)
Reference Rs104894897(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.30322793A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011716.2,