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rs104894888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894888(C;C)
Make rs104894888(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308564
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894888
ebirs104894888
HLIrs104894888
Exacrs104894888
Varsomers104894888
Maprs104894888
PheGenIrs104894888
hapmaprs104894888
1000 genomesrs104894888
hgdprs104894888
ensemblrs104894888
gopubmedrs104894888
geneviewrs104894888
scholarrs104894888
googlers104894888
pharmgkbrs104894888
gwascentralrs104894888
openSNPrs104894888
23andMers104894888
23andMe allrs104894888
SNP Nexus

SNPshotrs104894888
SNPdbers104894888
MSV3drs104894888
GWAS Ctlgrs104894888
Max Magnitude0
OMIM300473
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894888(C;C)
Alt rs104894888(C;C)
Reference rs104894888(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.30326681C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011699.9,