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rs104894907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894907(C;C)
Make rs104894907(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308474
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894907
dbSNP (classic)rs104894907
ClinGenrs104894907
ebirs104894907
HLIrs104894907
Exacrs104894907
Gnomadrs104894907
Varsomers104894907
LitVarrs104894907
Maprs104894907
PheGenIrs104894907
Biobankrs104894907
1000 genomesrs104894907
hgdprs104894907
ensemblrs104894907
geneviewrs104894907
scholarrs104894907
googlers104894907
pharmgkbrs104894907
gwascentralrs104894907
openSNPrs104894907
23andMers104894907
SNPshotrs104894907
SNPdbers104894907
MSV3drs104894907
GWAS Ctlgrs104894907
Max Magnitude0
OMIM300473
Desc
Variant0028
Relatedalso
ClinVar
Risk rs104894907(C;C)
Alt rs104894907(C;C)
Reference Rs104894907(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.30326591A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011723.7,