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rs104894886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894886(A;A)
Make rs104894886(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308257
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894886
dbSNP (classic)rs104894886
ClinGenrs104894886
ebirs104894886
HLIrs104894886
Exacrs104894886
Gnomadrs104894886
Varsomers104894886
LitVarrs104894886
Maprs104894886
PheGenIrs104894886
Biobankrs104894886
1000 genomesrs104894886
hgdprs104894886
ensemblrs104894886
geneviewrs104894886
scholarrs104894886
googlers104894886
pharmgkbrs104894886
gwascentralrs104894886
openSNPrs104894886
23andMers104894886
SNPshotrs104894886
SNPdbers104894886
MSV3drs104894886
GWAS Ctlgrs104894886
Max Magnitude0
OMIM300473
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894886(A;A)
Alt rs104894886(A;A)
Reference Rs104894886(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.30326374C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011697.9,