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rs104894906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894906(A;A)
Make rs104894906(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30304795
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894906
dbSNP (classic)rs104894906
ClinGenrs104894906
ebirs104894906
HLIrs104894906
Exacrs104894906
Gnomadrs104894906
Varsomers104894906
LitVarrs104894906
Maprs104894906
PheGenIrs104894906
Biobankrs104894906
1000 genomesrs104894906
hgdprs104894906
ensemblrs104894906
geneviewrs104894906
scholarrs104894906
googlers104894906
pharmgkbrs104894906
gwascentralrs104894906
openSNPrs104894906
23andMers104894906
SNPshotrs104894906
SNPdbers104894906
MSV3drs104894906
GWAS Ctlgrs104894906
Max Magnitude0
OMIM300473
Desc
Variant0027
Relatedalso
ClinVar
Risk rs104894906(A;A)
Alt rs104894906(A;A)
Reference Rs104894906(C;C)
Significance Pathogenic
Disease Congenital adrenal hypoplasia
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.30322912G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011722.10,